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[Clinical and genetic analysis of a child with X-linked Hoyeraal-Hreidarsson syndrome due to variant of DKC1 gene and a literature review].
You Y, Han D, Liu W, Yuan Z. You Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2025 Oct 10;42(10):1212-1218. doi: 10.3760/cma.j.cn511374-20241207-00641. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2025. PMID: 41451493 Review. Chinese.
OBJECTIVE: To explore the clinical features and genetic etiology of a child with Hoyeraal-Hreidarsson syndrome (HHS). METHODS: A child with HHS diagnosed at the Affiliated Hospital of Jining Medical University due to "developmental delay and anaemia" on April …
OBJECTIVE: To explore the clinical features and genetic etiology of a child with Hoyeraal-Hreidarsson syndrome (HHS). M …
[Clinical and genetic characteristics of 6 cases of congenital dyskeratosis in children].
Guo L, Wang ZL, Lu L, Ma Q, Shen DP, Zheng XY, Zhao H, Liu Y, Yang XH, Lu MP. Guo L, et al. Zhonghua Er Ke Za Zhi. 2025 Dec 2;63(12):1306-1311. doi: 10.3760/cma.j.cn112140-20250814-00752. Zhonghua Er Ke Za Zhi. 2025. PMID: 41233126 Chinese.
Results: Among the 6 DC patients, 1 case was of Hoyeraal-Hreidarsson syndrome, 4 were male, and 2 were female. The diagnosis age 0.9-6.1 years. ...
Results: Among the 6 DC patients, 1 case was of Hoyeraal-Hreidarsson syndrome, 4 were male, and 2 were female. The diag …
Separation of telomere protection from length regulation by two different point mutations at amino acid 492 of RTEL1.
Smoom R, May CL, Lichtental D, Bar-Ness K, Rangel R, Khoury J, Nachmani D, Avrahami D, Ahangari F, Skordalakes E, Kaminski N, Kaestner KH, Tzfati Y. Smoom R, et al. Nucleic Acids Res. 2025 Jun 6;53(11):gkaf507. doi: 10.1093/nar/gkaf507. Nucleic Acids Res. 2025. PMID: 40530700 Free PMC article.
In humans, a methionine to isoleucine mutation at this position causes the fatal telomere biology disorder Hoyeraal-Hreidarsson syndrome (HHS). Here, we introduced the Rtel1M492I point mutation into the mouse genome, generating another mouse model, which we t …
In humans, a methionine to isoleucine mutation at this position causes the fatal telomere biology disorder Hoyeraal-Hreidarsson …
De Novo Splice-Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal-Hreidarsson Syndrome.
Braun D, Gregor A, Haubitz M, Baerlocher GM, Kraus C, Rieubland C, Zweier C. Braun D, et al. Am J Med Genet A. 2025 Sep;197(9):e64097. doi: 10.1002/ajmg.a.64097. Epub 2025 Apr 23. Am J Med Genet A. 2025. PMID: 40265669
Pathogenic variants in DKC1 cause an X-linked multiorgan disease called dyskeratosis congenita (DC), the most severe form of which is Hoyeraal-Hreidarsson syndrome (HHS). HHS due to DKC1 variants has so far only been reported in hemizygous males and is associ …
Pathogenic variants in DKC1 cause an X-linked multiorgan disease called dyskeratosis congenita (DC), the most severe form of which is Hoy …
DCLRE1B as a novel prognostic biomarker associated with immune infiltration: a pancancer analysis.
Zou M, Feng Z, Hu K, Shu Y, Li T, Peng X, Chen L, Xiao L, Zhang S, Xiong T, Deng X, Peng J, Hao L. Zou M, et al. Sci Rep. 2024 Dec 30;14(1):31636. doi: 10.1038/s41598-024-80603-y. Sci Rep. 2024. PMID: 39738287 Free PMC article.
The DNA cross-link repair 1B (DCLRE1B) gene is involved in repairing cross-links between DNA strands, including those associated with Hoyeraal-Hreidarsson syndrome and congenital dyskeratosis. However, its role in tumours is not well understood. ...
The DNA cross-link repair 1B (DCLRE1B) gene is involved in repairing cross-links between DNA strands, including those associated with Hoy …
Hoyeraal-Hreidarsson syndrome: a case report of dyskeratosis congenita with a novel PARN gene mutation.
Çalişkan Kamiş Ş, Çil M, Yağci-Küpeli B. Çalişkan Kamiş Ş, et al. Ann Med Surg (Lond). 2024 Oct 16;86(12):7395-7397. doi: 10.1097/MS9.0000000000002661. eCollection 2024 Dec. Ann Med Surg (Lond). 2024. PMID: 39649862 Free PMC article.
CASE PRESENTATION: The authors present a case of a 2-year-old girl diagnosed with Hoyeraal-Hreidarsson syndrome, linked to a newly discovered mutation in the poly (A)-specific ribonuclease (PARN) gene. ...Whole-exome sequencing (WES) identified a novel mutati …
CASE PRESENTATION: The authors present a case of a 2-year-old girl diagnosed with Hoyeraal-Hreidarsson syndrome, linked …
Telomere function and regulation from mouse models to human ageing and disease.
Jones-Weinert C, Mainz L, Karlseder J. Jones-Weinert C, et al. Nat Rev Mol Cell Biol. 2025 Apr;26(4):297-313. doi: 10.1038/s41580-024-00800-5. Epub 2024 Nov 29. Nat Rev Mol Cell Biol. 2025. PMID: 39614014 Free PMC article. Review.
Telomere biology disorders include dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, Coats plus syndrome and Revesz syndrome. Although mouse models have been invaluable in advancing telomere research, full recapitulation of human telomere-related disease …
Telomere biology disorders include dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, Coats plus syndrome and Reves …
Germline RTEL1 Variants in Telomere Biology Disorders.
Thompson AS, Niewisch MR, Giri N, McReynolds LJ, Savage SA. Thompson AS, et al. Am J Med Genet A. 2025 Feb;197(2):e63882. doi: 10.1002/ajmg.a.63882. Epub 2024 Sep 16. Am J Med Genet A. 2025. PMID: 39279436
Biallelic RTEL1 variants result in childhood onset dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome whereas heterozygous individuals usually present later in life with pulmonary fibrosis or bone marrow failure. ...
Biallelic RTEL1 variants result in childhood onset dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome whereas het …
A comprehensive in silico investigation into the pathogenic SNPs in the RTEL1 gene and their biological consequences.
Tanshee RR, Mahmud Z, Nabi AHMN, Sayem M. Tanshee RR, et al. PLoS One. 2024 Sep 6;19(9):e0309713. doi: 10.1371/journal.pone.0309713. eCollection 2024. PLoS One. 2024. PMID: 39240887 Free PMC article.
Germline mutations in the RTEL1 gene have been clinically associated with Hoyeraal-Hreidarsson syndrome, a more severe version of Dyskeratosis Congenita. Although various research has sought to link RTEL1 mutations to specific disorders, no comprehensive inve …
Germline mutations in the RTEL1 gene have been clinically associated with Hoyeraal-Hreidarsson syndrome, a more severe …
Separation of telomere protection from length regulation by two different point mutations at amino acid 492 of RTEL1.
Smoom R, May CL, Lichtental D, Skordalakes E, Kaestner KH, Tzfati Y. Smoom R, et al. bioRxiv [Preprint]. 2024 Aug 25:2024.02.26.582005. doi: 10.1101/2024.02.26.582005. bioRxiv. 2024. Update in: Nucleic Acids Res. 2025 Jun 6;53(11):gkaf507. doi: 10.1093/nar/gkaf507. PMID: 38464183 Free PMC article. Updated. Preprint.
In humans, a missense mutation at this position ( Rtel1 (M492I) ) causes a fatal telomere biology disease termed Hoyeraal-Hreidarsson syndrome (HHS). Introducing the Rtel1 (M492K) mutation into M. musculus shortened the telomeres of the resulting strain, term …
In humans, a missense mutation at this position ( Rtel1 (M492I) ) causes a fatal telomere biology disease termed Hoyeraal-Hreidars …
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.
Bertrand A, Ba I, Kermasson L, Pirabakaran V, Chable N, Lainey E, Ménard C, Kallel F, Picard C, Hadiji S, Coolen-Allou N, Blanchard E, de Villartay JP, Moshous D, Roelens M, Callebaut I, Kannengiesser C, Revy P. Bertrand A, et al. Hum Mol Genet. 2024 Mar 20;33(7):612-623. doi: 10.1093/hmg/ddad210. Hum Mol Genet. 2024. PMID: 38176734
Germline defects that lead to short and/or dysfunctional telomeres cause telomere biology disorders (TBDs), a group of rare and heterogeneous Mendelian diseases including pulmonary fibrosis, dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome. TPP1, a t …
Germline defects that lead to short and/or dysfunctional telomeres cause telomere biology disorders (TBDs), a group of rare and heterogeneou …
Conformational plasticity and allosteric communication networks explain Shelterin protein TPP1 binding to human telomerase.
Aureli S, Cardenas VB, Raniolo S, Limongelli V. Aureli S, et al. Commun Chem. 2023 Nov 7;6(1):242. doi: 10.1038/s42004-023-01040-y. Commun Chem. 2023. PMID: 37935941 Free PMC article.
Aberrations in the TPP1-TERT heterodimer formation might lead to short telomeres and severe diseases like dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. In the present study, we provide a thorough characterization of the structural properties of th …
Aberrations in the TPP1-TERT heterodimer formation might lead to short telomeres and severe diseases like dyskeratosis congenita and Hoye …
Endoscopic Assessment and Serial Balloon Dilatation in a Toddler With Dyskeratosis Congenita-Hoyeraal-Hreidarsson Syndrome Following Bone Marrow Transplant: A Case Report.
Rodriguez K, Shargo R, Ekblad M, Sunkersett G, Karjoo S, Betensky M, Wilsey MJ. Rodriguez K, et al. JPGN Rep. 2023 Mar 13;4(2):e291. doi: 10.1097/PG9.0000000000000291. eCollection 2023 May. JPGN Rep. 2023. PMID: 37200733 Free PMC article.
The patient has a history of Dyskeratosis Congenita-Hoyeraal-Hreidarsson Syndrome with associated bone marrow failure requiring a nonmyeloablative matched sibling hematopoietic stem cell transplant. ...We believe the patient's underlying Dyskeratosis Congenit …
The patient has a history of Dyskeratosis Congenita-Hoyeraal-Hreidarsson Syndrome with associated bone marrow failure r …
Dyskeratosis Congenita and Related Telomere Biology Disorders.
Savage SA, Niewisch MR. Savage SA, et al. 2009 Nov 12 [updated 2023 Jan 19]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2009 Nov 12 [updated 2023 Jan 19]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301779 Free Books & Documents. Review.
Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is present in both forms; additional findings include cerebellar hypoplasia (Hoyeraal Hreidarsson syndrome) and bilateral exu …
Although most persons with DC/TBD have normal psychomotor development and normal neurologic function, significant developmental delay is pre …
A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome.
Chu CM, Yu HH, Kao TL, Chen YH, Lu HH, Wu ET, Yang YL, Lin CH, Lin SY, Tsai MM, Chien YH, Hwu WL, Chen WP, Lee NC, Tseng CK. Chu CM, et al. NPJ Genom Med. 2022 Oct 30;7(1):64. doi: 10.1038/s41525-022-00335-8. NPJ Genom Med. 2022. PMID: 36309505 Free PMC article.
Hoyeraal-Hreidarsson syndrome (HHS) is the most severe form of dyskeratosis congenita (DC) and is caused by mutations in genes involved in telomere maintenance. ...
Hoyeraal-Hreidarsson syndrome (HHS) is the most severe form of dyskeratosis congenita (DC) and is caused by mutations i …
Resonance assignment and secondary structure of the tandem harmonin homology domains of human RTEL1.
Kumar N, Ghosh M, Manikandan P, Basak S, Deepa A, Singh M. Kumar N, et al. Biomol NMR Assign. 2022 Apr;16(1):159-164. doi: 10.1007/s12104-022-10074-7. Epub 2022 Mar 23. Biomol NMR Assign. 2022. PMID: 35320499
The tandem HHD1 and HHD2 are characterized as a putative protein-protein interaction domain and have recently been shown to interact with a DNA repair protein SLX4. Several mutations associated with Hoyeraal-Hreidarsson syndrome and pulmonary fibrosis have be …
The tandem HHD1 and HHD2 are characterized as a putative protein-protein interaction domain and have recently been shown to interact with a …
Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.
Kermasson L, Churikov D, Awad A, Smoom R, Lainey E, Touzot F, Audebert-Bellanger S, Haro S, Roger L, Costa E, Mouf M, Bottero A, Oleastro M, Abdo C, de Villartay JP, Géli V, Tzfati Y, Callebaut I, Danielian S, Soares G, Kannengiesser C, Revy P. Kermasson L, et al. Blood. 2022 Apr 21;139(16):2427-2440. doi: 10.1182/blood.2021010791. Blood. 2022. PMID: 35007328 Free PMC article.
Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings.
Çepni E, Satkın NB, Moheb LA, Rocha ME, Kayserili H. Çepni E, et al. Am J Med Genet A. 2022 Apr;188(4):1226-1232. doi: 10.1002/ajmg.a.62602. Epub 2021 Dec 9. Am J Med Genet A. 2022. PMID: 34890115
Dyskeratosis congenita (DC) is a rare, multisystemic telomere biology disorder characterized by abnormal skin pigmentation, oral leukoplakia and nail dysplasia along with various somatic findings. Hoyeraal-Hreidarsson syndrome (HHS) is generally an autosomal …
Dyskeratosis congenita (DC) is a rare, multisystemic telomere biology disorder characterized by abnormal skin pigmentation, oral leukoplakia …
Treatment of telomeropathies.
Vieri M, Brümmendorf TH, Beier F. Vieri M, et al. Best Pract Res Clin Haematol. 2021 Jun;34(2):101282. doi: 10.1016/j.beha.2021.101282. Epub 2021 Jul 1. Best Pract Res Clin Haematol. 2021. PMID: 34404536 Review.
Different degrees of severity are also observed among patients with TBDs, ranging from very severe syndromes manifesting themselves in early childhood, such as Revesz syndrome, Hoyeraal-Hreidarsson syndrome, and Coats plus disease, to dyskeratosis cong …
Different degrees of severity are also observed among patients with TBDs, ranging from very severe syndromes manifesting themselves in early …
Phylogenetic analysis of Harmonin homology domains.
Colcombet-Cazenave B, Druart K, Bonnet C, Petit C, Spérandio O, Guglielmini J, Wolff N. Colcombet-Cazenave B, et al. BMC Bioinformatics. 2021 Apr 14;22(1):190. doi: 10.1186/s12859-021-04116-5. BMC Bioinformatics. 2021. PMID: 33853521 Free PMC article.
Finally, we discussed the functional consequences of three identified pathogenic HHD variants involved in Hoyeraal-Hreidarsson syndrome and of three newly reported pathogenic variants identified in patients suffering from Usher Syndrome....
Finally, we discussed the functional consequences of three identified pathogenic HHD variants involved in Hoyeraal-Hreidarsson …
Brain imaging features of children with Hoyeraal-Hreidarsson syndrome.
Zhang MJ, Cao YX, Wu HY, Li HH. Zhang MJ, et al. Brain Behav. 2021 May;11(5):e02079. doi: 10.1002/brb3.2079. Epub 2021 Mar 18. Brain Behav. 2021. PMID: 33734615 Free PMC article.
The clinical manifestations and CNS imaging features of Hoyeraal-Hreidarsson syndrome were summarized based on our results and a literature review. ...Combining imaging features with clinical and laboratory indicators can assist the diagnosis of Hoyeraal …
The clinical manifestations and CNS imaging features of Hoyeraal-Hreidarsson syndrome were summarized based on our resu …
Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.
Himes RW, Chiou EH, Queliza K, Shouval DS, Somech R, Agarwal S, Jajoo K, Ziegler DS, Kratz CP, Huang J, Lucas TL, Myers KC, Nelson AS, DiNardo CD, Alter BP, Giri N, Khincha PP, McReynolds LJ, Dufour C, Pierri F, Goldman FD, Sherif Y, Savage SA, Miloh T, Bertuch AA. Himes RW, et al. J Pediatr. 2021 Mar;230:55-61.e4. doi: 10.1016/j.jpeds.2020.09.038. Epub 2020 Sep 21. J Pediatr. 2021. PMID: 32971146
OBJECTIVE: To describe the clinical features, therapeutic interventions, and patient outcomes of gastrointestinal (GI) hemorrhage in individuals with a telomere biology disorder, including dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, Revesz syndrome …
OBJECTIVE: To describe the clinical features, therapeutic interventions, and patient outcomes of gastrointestinal (GI) hemorrhage in individ …
An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency.
Ziv A, Werner L, Konnikova L, Awad A, Jeske T, Hastreiter M, Mitsialis V, Stauber T, Wall S, Kotlarz D, Klein C, Snapper SB, Tzfati Y, Weiss B, Somech R, Shouval DS. Ziv A, et al. J Clin Immunol. 2020 Oct;40(7):1010-1019. doi: 10.1007/s10875-020-00829-z. Epub 2020 Jul 24. J Clin Immunol. 2020. PMID: 32710398
RESULTS: The patient presented in infancy with failure to thrive and dysmorphic features, consistent with a diagnosis of dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Severe ulcerative colitis manifested in the first year of life and proceeded to …
RESULTS: The patient presented in infancy with failure to thrive and dysmorphic features, consistent with a diagnosis of dyskeratosis congen …
Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomerase.
Awad A, Glousker G, Lamm N, Tawil S, Hourvitz N, Smoom R, Revy P, Tzfati Y. Awad A, et al. Nucleic Acids Res. 2020 Jul 27;48(13):7239-7251. doi: 10.1093/nar/gkaa503. Nucleic Acids Res. 2020. PMID: 32542379 Free PMC article.
However, telomeres in somatic cells gradually shorten with age, ultimately leading to cellular senescence. Hoyeraal-Hreidarsson syndrome (HHS) is characterized by accelerated telomere shortening and diverse symptoms including bone marrow failure, immunodefici …
However, telomeres in somatic cells gradually shorten with age, ultimately leading to cellular senescence. Hoyeraal-Hreidarsson …
CD8+ T-cell senescence and skewed lymphocyte subsets in young Dyskeratosis Congenita patients with PARN and DKC1 mutations.
Zeng T, Lv G, Chen X, Yang L, Zhou L, Dou Y, Tang X, Yang J, An Y, Zhao X. Zeng T, et al. J Clin Lab Anal. 2020 Sep;34(9):e23375. doi: 10.1002/jcla.23375. Epub 2020 May 25. J Clin Lab Anal. 2020. PMID: 32452087 Free PMC article.
In addition, patient 1 (P1) was diagnosed with Hoyeraal-Hreidarsson syndrome due to cerebellar hypoplasia. Gene sequencing showed P1 had a compound heterozygous mutation (c.204G > T and c.178-245del) in PARN and P2 had a novel hemizygous mutation in DKC1 ( …
In addition, patient 1 (P1) was diagnosed with Hoyeraal-Hreidarsson syndrome due to cerebellar hypoplasia. Gene sequenc …
SLX4 interacts with RTEL1 to prevent transcription-mediated DNA replication perturbations.
Takedachi A, Despras E, Scaglione S, Guérois R, Guervilly JH, Blin M, Audebert S, Camoin L, Hasanova Z, Schertzer M, Guille A, Churikov D, Callebaut I, Naim V, Chaffanet M, Borg JP, Bertucci F, Revy P, Birnbaum D, Londoño-Vallejo A, Kannouche PL, Gaillard PHL. Takedachi A, et al. Nat Struct Mol Biol. 2020 May;27(5):438-449. doi: 10.1038/s41594-020-0419-3. Epub 2020 May 11. Nat Struct Mol Biol. 2020. PMID: 32398829
Here, we unravel an unexpected direct interaction between SLX4 and the DNA helicase RTEL1, which, until now, were viewed as having independent and antagonistic functions. We identify cancer and Hoyeraal-Hreidarsson syndrome-associated mutations in SLX4 and RT …
Here, we unravel an unexpected direct interaction between SLX4 and the DNA helicase RTEL1, which, until now, were viewed as having independe …
Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndrome.
Bergstrand S, Böhm S, Malmgren H, Norberg A, Sundin M, Nordgren A, Farnebo M. Bergstrand S, et al. Cell Death Dis. 2020 Apr 17;11(4):238. doi: 10.1038/s41419-020-2421-4. Cell Death Dis. 2020. PMID: 32303682 Free PMC article.
Approximately half of all cases of Hoyeraal-Hreidarsson syndrome (HHS), a multisystem disorder characterized by bone marrow failure, developmental defects and very short telomeres, are caused by germline mutations in genes related to telomere biology. ...
Approximately half of all cases of Hoyeraal-Hreidarsson syndrome (HHS), a multisystem disorder characterized by bone ma …
Naturally occurring modified ribonucleosides.
McCown PJ, Ruszkowska A, Kunkler CN, Breger K, Hulewicz JP, Wang MC, Springer NA, Brown JA. McCown PJ, et al. Wiley Interdiscip Rev RNA. 2020 Sep;11(5):e1595. doi: 10.1002/wrna.1595. Epub 2020 Apr 16. Wiley Interdiscip Rev RNA. 2020. PMID: 32301288 Free PMC article. Review.
The aberrant presence or absence of RNA modifications can lead to human disease, ranging from cancer to various metabolic and developmental illnesses such as Hoyeraal-Hreidarsson syndrome, Bowen-Conradi syndrome, or Williams-Beuren syndrome. In this review ar …
The aberrant presence or absence of RNA modifications can lead to human disease, ranging from cancer to various metabolic and developmental …
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Hoyeraal-Hreidarsson syndrome.
Benyelles M, O'Donohue MF, Kermasson L, Lainey E, Borie R, Lagresle-Peyrou C, Nunes H, Cazelles C, Fourrage C, Ollivier E, Marcais A, Gamez AS, Morice-Picard F, Caillaud D, Pottier N, Ménard C, Ba I, Fernandes A, Crestani B, de Villartay JP, Gleizes PE, Callebaut I, Kannengiesser C, Revy P. Benyelles M, et al. Hum Mol Genet. 2020 Apr 15;29(6):907-922. doi: 10.1093/hmg/ddaa011. Hum Mol Genet. 2020. PMID: 31985013
NHP2 mutations have been so far reported only in two patients with DC. Here, we report the first case of Hoyeraal-Hreidarsson syndrome, the severe form of DC, caused by biallelic missense mutations in NHP2. ...
NHP2 mutations have been so far reported only in two patients with DC. Here, we report the first case of Hoyeraal-Hreidarsson …
CNS manifestations in patients with telomere biology disorders.
Bhala S, Best AF, Giri N, Alter BP, Pao M, Gropman A, Baker EH, Savage SA. Bhala S, et al. Neurol Genet. 2019 Oct 29;5(6):370. doi: 10.1212/NXG.0000000000000370. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 31872047 Free PMC article.
METHODS: Forty-four participants with TBDs (31 dyskeratosis congenita, 12 Hoyeraal-Hreidarsson syndrome, and 1 Revesz syndrome) enrolled in an institutional review board-approved longitudinal cohort study underwent detailed clinical assessments, brain MRI, an …
METHODS: Forty-four participants with TBDs (31 dyskeratosis congenita, 12 Hoyeraal-Hreidarsson syndrome, and 1 Revesz s …
Copy Number Gain at Xq28 in a Child with Global Developmental Delay Associated with a Variant Form of Hoyeraal-Hreidarsson Syndrome.
Gonçalves Ramos LL, Plaza Pinto I, Deb R, Ribeiro CL, Mírian da Cruz E Cunha D, Bernardes Minasi L, Cordeiro Silva AMT, da Cruz AD. Gonçalves Ramos LL, et al. Mol Syndromol. 2019 Jul;10(4):214-218. doi: 10.1159/000500005. Epub 2019 Apr 27. Mol Syndromol. 2019. PMID: 31602194 Free PMC article.
Rearrangements and mutations involving this gene have been associated with dyskeratosis congenita, X-linked (OMIM 305000) and Hoyeraal-Hreidarsson syndrome. CMA was a powerful and efficient approach to identify a gain at Xq28 harboring the DKC1 gene in our pa …
Rearrangements and mutations involving this gene have been associated with dyskeratosis congenita, X-linked (OMIM 305000) and Hoyeraal …
An update on the biology and management of dyskeratosis congenita and related telomere biology disorders.
Niewisch MR, Savage SA. Niewisch MR, et al. Expert Rev Hematol. 2019 Dec;12(12):1037-1052. doi: 10.1080/17474086.2019.1662720. Epub 2019 Sep 10. Expert Rev Hematol. 2019. PMID: 31478401 Free PMC article. Review.
Possible TBD manifestations range from complex multisystem disorders with onset in childhood such as dyskeratosis congenita (DC), Hoyeraal-Hreidarsson syndrome, Revesz syndrome and Coats plus to adults presenting with one or two DC-related features.Areas cove …
Possible TBD manifestations range from complex multisystem disorders with onset in childhood such as dyskeratosis congenita (DC), Hoyeraa …
From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants.
Dodson LM, Baldan A, Nissbeck M, Gunja SMR, Bonnen PE, Aubert G, Birchansky S, Virtanen A, Bertuch AA. Dodson LM, et al. Hum Mutat. 2019 Dec;40(12):2414-2429. doi: 10.1002/humu.23898. Epub 2019 Sep 15. Hum Mutat. 2019. PMID: 31448843 Free PMC article.
Biallelic and monoallelic PARN variants are associated with Hoyeraal-Hreidarsson syndrome/dyskeratosis congenita and idiopathic pulmonary fibrosis (IPF), respectively. ...
Biallelic and monoallelic PARN variants are associated with Hoyeraal-Hreidarsson syndrome/dyskeratosis congenita and id …
Complications for a Hoyeraal-Hreidarsson Syndrome Patient with a Germline DKC1 A353V Variant Undergoing Unrelated Peripheral Blood Stem Cell Transplantation.
Chen RL, Lin KK, Chen LY. Chen RL, et al. Int J Mol Sci. 2019 Jul 2;20(13):3261. doi: 10.3390/ijms20133261. Int J Mol Sci. 2019. PMID: 31269755 Free PMC article.
Hoyeraal-Hreidarsson syndrome (HHS), caused by several different germline mutations resulting in severe telomeropathy, presents with early-onset growth anomalies and neurologic/developmental disorders including characteristic cerebellar hypoplasia. ...
Hoyeraal-Hreidarsson syndrome (HHS), caused by several different germline mutations resulting in severe telomeropathy, …
Generation of an Rtel1-CreERT2 knock-in mouse model for lineage tracing RTEL1+ stem cells during development.
Seshadri N, Sandhu S, Wu X, Liu W, Ding H. Seshadri N, et al. Transgenic Res. 2018 Dec;27(6):571-578. doi: 10.1007/s11248-018-0093-y. Epub 2018 Sep 8. Transgenic Res. 2018. PMID: 30196476
This function of RTEL1 could be required for protecting stem cells from genomic mutations as suggested by its selective expression in stem cell-zones, as well as by RTEL1 mutations identified in Hoyeraal-Hreidarsson syndrome, a severe dyskeratosis congenita t …
This function of RTEL1 could be required for protecting stem cells from genomic mutations as suggested by its selective expression in stem c …
Human RTEL1 stabilizes long G-overhangs allowing telomerase-dependent over-extension.
Porreca RM, Glousker G, Awad A, Matilla Fernandez MI, Gibaud A, Naucke C, Cohen SB, Bryan TM, Tzfati Y, Draskovic I, Londoño-Vallejo A. Porreca RM, et al. Nucleic Acids Res. 2018 May 18;46(9):4533-4545. doi: 10.1093/nar/gky173. Nucleic Acids Res. 2018. PMID: 29522136 Free PMC article.
Mutations in hRTEL1 are associated with a severe form of DC called Hoyeraal-Hreidarsson syndrome (HHS). HHS patients carry short telomeres and HHS cells display telomere damage. ...
Mutations in hRTEL1 are associated with a severe form of DC called Hoyeraal-Hreidarsson syndrome (HHS). HHS patients ca …
When Telomerase Causes Telomere Loss.
Glousker G, Lingner J. Glousker G, et al. Dev Cell. 2018 Feb 5;44(3):281-283. doi: 10.1016/j.devcel.2018.01.011. Epub 2018 Feb 5. Dev Cell. 2018. PMID: 29408234 Free article.
Paradoxically, in a recent issue of Cell, Margalef et al. (2018) demonstrate that telomerase causes telomere loss in cells lacking the RTEL1 helicase, which is defective in Hoyeraal-Hreidarsson syndrome (HHS)....
Paradoxically, in a recent issue of Cell, Margalef et al. (2018) demonstrate that telomerase causes telomere loss in cells lacking the RTEL1 …
Colonic Angioectasia in an Adolescent Boy with Hoyeraal-Hreidarsson on Long-Term Anabolic Steroid Therapy.
Khalaf R, Cuffari C. Khalaf R, et al. Pediatr Gastroenterol Hepatol Nutr. 2018 Jan;21(1):68-71. doi: 10.5223/pghn.2018.21.1.68. Epub 2018 Jan 12. Pediatr Gastroenterol Hepatol Nutr. 2018. PMID: 29383307 Free PMC article.
Herein, we report on a case of colonic angioectasia secondary to oxymetholone use in an adolescent patient with Hoyeraal-Hreidarsson syndrome (HHS). A 13-year-old Caucasian male with HHS characterized by cerebellar hypoplasia, developmental delay, microcephal …
Herein, we report on a case of colonic angioectasia secondary to oxymetholone use in an adolescent patient with Hoyeraal-Hreidarss …
Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita.
Bizarro J, Meier UT. Bizarro J, et al. Mol Genet Genomic Med. 2017 Nov;5(6):805-808. doi: 10.1002/mgg3.314. Epub 2017 Aug 15. Mol Genet Genomic Med. 2017. PMID: 29178645 Free PMC article.
CONCLUSION: Intrauterine growth retardation and the neurological phenotype of the patient are reminiscent of the severe clinical variant of DC, the Hoyeraal-Hreidarsson syndrome (HH). Hence, SHQ1 screening may be warranted in patients with inherited bone marr …
CONCLUSION: Intrauterine growth retardation and the neurological phenotype of the patient are reminiscent of the severe clinical variant of …
Clinical heterogeneity in a family with DKC1 mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins.
Olivieri C, Mondino A, Chinello M, Risso A, Finale E, Lanciotti M, Guala A. Olivieri C, et al. Pediatr Rep. 2017 Oct 6;9(3):7301. doi: 10.4081/pr.2017.7301. eCollection 2017 Oct 6. Pediatr Rep. 2017. PMID: 29081935 Free PMC article.
Dyskeratosis congenita (DC) is an inherited bone marrow failure disorder characterized by mucocutaneous features (skin pigmentation, nail dystrophy and oral leukoplakia), pulmonary fibrosis, hematologic and solid malignancies. Its severe form, recognized as Hoyeraal-Hre …
Dyskeratosis congenita (DC) is an inherited bone marrow failure disorder characterized by mucocutaneous features (skin pigmentation, nail dy …
A new role for human dyskerin in vesicular trafficking.
Di Maio N, Vicidomini R, Angrisani A, Belli V, Furia M, Turano M. Di Maio N, et al. FEBS Open Bio. 2017 Sep 12;7(10):1453-1468. doi: 10.1002/2211-5463.12307. eCollection 2017 Oct. FEBS Open Bio. 2017. PMID: 28979836 Free PMC article.
Dyskerin is an essential, conserved, multifunctional protein found in the nucleolus, whose loss of function causes the rare genetic diseases X-linked dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. To further investigate the wide range of dyskerin's …
Dyskerin is an essential, conserved, multifunctional protein found in the nucleolus, whose loss of function causes the rare genetic diseases …
Clinical and Molecular Heterogeneity of RTEL1 Deficiency.
Speckmann C, Sahoo SS, Rizzi M, Hirabayashi S, Karow A, Serwas NK, Hoemberg M, Damatova N, Schindler D, Vannier JB, Boulton SJ, Pannicke U, Göhring G, Thomay K, Verdu-Amoros JJ, Hauch H, Woessmann W, Escherich G, Laack E, Rindle L, Seidl M, Rensing-Ehl A, Lausch E, Jandrasits C, Strahm B, Schwarz K, Ehl SR, Niemeyer C, Boztug K, Wlodarski MW. Speckmann C, et al. Front Immunol. 2017 May 1;8:449. doi: 10.3389/fimmu.2017.00449. eCollection 2017. Front Immunol. 2017. PMID: 28507545 Free PMC article.
In addition, three patients with homozygous mutations p.Trp456Cys or p.Ile425Thr also suffered from immunodeficiency, cerebellar hypoplasia, and enteropathy, consistent with Hoyeraal-Hreidarsson syndrome. Chromosomal breakage resembling a homologous recombina …
In addition, three patients with homozygous mutations p.Trp456Cys or p.Ile425Thr also suffered from immunodeficiency, cerebellar hypoplasia, …
Telomere-driven diseases and telomere-targeting therapies.
Martínez P, Blasco MA. Martínez P, et al. J Cell Biol. 2017 Apr 3;216(4):875-887. doi: 10.1083/jcb.201610111. Epub 2017 Mar 2. J Cell Biol. 2017. PMID: 28254828 Free PMC article. Review.
Mutations in telomere maintenance genes are associated with pathologies referred to as telomere syndromes, including Hoyeraal-Hreidarsson syndrome, dyskeratosis congenita, pulmonary fibrosis, aplastic anemia, and liver fibrosis. ...
Mutations in telomere maintenance genes are associated with pathologies referred to as telomere syndromes, including Hoyeraal-Hrei …
Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations.
Touzot F, Kermasson L, Jullien L, Moshous D, Ménard C, Ikincioğullari A, Doğu F, Sari S, Giacobbi-Milet V, Etzioni A, Soulier J, Londono-Vallejo A, Fischer A, Callebaut I, de Villartay JP, Leblanc T, Kannengiesser C, Revy P. Touzot F, et al. Blood Adv. 2016 Nov 22;1(1):36-46. doi: 10.1182/bloodadvances.2016001313. eCollection 2016 Nov 29. Blood Adv. 2016. PMID: 29296694 Free PMC article.
In humans, biallelic RTEL1 mutations cause Hoyeraal-Hreidarsson syndrome (HH), a rare and severe telomere biology disorder characterized by intrauterine growth retardation, bone marrow failure, microcephaly and/or cerebellar hypoplasia, and immunodeficiency. …
In humans, biallelic RTEL1 mutations cause Hoyeraal-Hreidarsson syndrome (HH), a rare and severe telomere biology disor …
Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita.
Allingham MJ. Allingham MJ. Ophthalmic Surg Lasers Imaging Retina. 2016 Apr 1;47(4):366-8. doi: 10.3928/23258160-20160324-11. Ophthalmic Surg Lasers Imaging Retina. 2016. PMID: 27065378 Free PMC article.
Dyskeratosis congenita (DC) is the prototypical member of a family of diseases caused by defective telomere maintenance. These "telomeropathies" also include Hoyeraal-Hreidarsson syndrome (HH) and Revesz syndrome, which are severe forms of dyskeratosis congen …
Dyskeratosis congenita (DC) is the prototypical member of a family of diseases caused by defective telomere maintenance. These "telomeropath …
Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure.
Dehmel M, Brenner S, Suttorp M, Hahn G, Schützle H, Dinger J, Di Donato N, Mackenroth L, von der Hagen M. Dehmel M, et al. Neuropediatrics. 2016 Jun;47(3):182-6. doi: 10.1055/s-0036-1578799. Epub 2016 Mar 7. Neuropediatrics. 2016. PMID: 26951492
A concomitant finding of hematological failure may lead to the differential diagnosis of rare genetic diseases such as chromosome breakage disorders or diseases associated with telomere dysfunction. X-linked Hoyeraal-Hreidarsson syndrome (HHS) is a rare heter …
A concomitant finding of hematological failure may lead to the differential diagnosis of rare genetic diseases such as chromosome breakage d …
Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.
Jullien L, Kannengiesser C, Kermasson L, Cormier-Daire V, Leblanc T, Soulier J, Londono-Vallejo A, de Villartay JP, Callebaut I, Revy P. Jullien L, et al. Hum Mutat. 2016 May;37(5):469-72. doi: 10.1002/humu.22966. Epub 2016 Feb 23. Hum Mutat. 2016. PMID: 26847928
Biallelic mutations in the RTEL1 gene account for the severe telomere biology disorder characteristic of the Hoyeraal-Hreidarsson syndrome (HH). Here, we report a HH patient (P4) carrying two novel compound heterozygous mutations in RTEL1: a premature stop co …
Biallelic mutations in the RTEL1 gene account for the severe telomere biology disorder characteristic of the Hoyeraal-Hreidarsson …
Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.
Burris AM, Ballew BJ, Kentosh JB, Turner CE, Norton SA; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Giri N, Alter BP, Nellan A, Gamper C, Hartman KR, Savage SA. Burris AM, et al. Pediatr Neurol. 2016 Mar;56:62-68.e1. doi: 10.1016/j.pediatrneurol.2015.12.005. Epub 2015 Dec 19. Pediatr Neurol. 2016. PMID: 26810774 Free PMC article.
Individuals with Hoyeraal-Hreidarsson syndrome often develop bone marrow failure in early childhood. Germline mutations in DKC1, TERT, TINF2, RTEL1, ACD, or PARN cause about 60% of individuals with Hoyeraal-Hreidarsson syndrome. ...CONCLU …
Individuals with Hoyeraal-Hreidarsson syndrome often develop bone marrow failure in early childhood. Germline mutations …
Hoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype.
Bakar Ö, Işik U, Canpolat C, Alanay Y. Bakar Ö, et al. Pediatr Dermatol. 2015 Nov-Dec;32(6):e263-6. doi: 10.1111/pde.12693. Epub 2015 Oct 8. Pediatr Dermatol. 2015. PMID: 26446280
Hoyeraal-Hreidarsson syndrome is a rare telomere biology disorder that is recognized as a severe variant of dyskeratosis congenita. ...
Hoyeraal-Hreidarsson syndrome is a rare telomere biology disorder that is recognized as a severe variant of dyskeratosi …
Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan.
Yamaguchi H, Sakaguchi H, Yoshida K, Yabe M, Yabe H, Okuno Y, Muramatsu H, Takahashi Y, Yui S, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Inokuchi K, Ito E, Ogawa S, Kojima S. Yamaguchi H, et al. Int J Hematol. 2015 Nov;102(5):544-52. doi: 10.1007/s12185-015-1861-6. Epub 2015 Sep 2. Int J Hematol. 2015. PMID: 26329388 Clinical Trial.
Dyskeratosis congenita (DKC) is an inherited bone marrow failure (BMF) syndrome typified by reticulated skin pigmentation, nail dystrophy, and mucosal leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is considered to be a severe form of DKC. Unconventional fo …
Dyskeratosis congenita (DKC) is an inherited bone marrow failure (BMF) syndrome typified by reticulated skin pigmentation, nail dystrophy, a …
Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.
Schertzer M, Jouravleva K, Perderiset M, Dingli F, Loew D, Le Guen T, Bardoni B, de Villartay JP, Revy P, Londoño-Vallejo A. Schertzer M, et al. Nucleic Acids Res. 2015 Feb 18;43(3):1834-47. doi: 10.1093/nar/gku1402. Epub 2015 Jan 27. Nucleic Acids Res. 2015. PMID: 25628358 Free PMC article.
Hoyeraal-Hreidarsson syndrome (HHS) is a severe form of Dyskeratosis congenita characterized by developmental defects, bone marrow failure and immunodeficiency and has been associated with telomere dysfunction. ...
Hoyeraal-Hreidarsson syndrome (HHS) is a severe form of Dyskeratosis congenita characterized by developmental defects, …
TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding.
Sarek G, Vannier JB, Panier S, Petrini JHJ, Boulton SJ. Sarek G, et al. Mol Cell. 2015 Feb 19;57(4):622-635. doi: 10.1016/j.molcel.2014.12.024. Epub 2015 Jan 22. Mol Cell. 2015. PMID: 25620558 Free PMC article.
We show that the TRF2-RTEL1 interaction is mediated by a metal-coordinating C4C4 motif in RTEL1, which is compromised by the Hoyeraal-Hreidarsson syndrome (HHS) mutation, RTEL1(R1264H). Conversely, we define a TRF2(I124D) substitution mutation within the TRFH …
We show that the TRF2-RTEL1 interaction is mediated by a metal-coordinating C4C4 motif in RTEL1, which is compromised by the Hoyeraal …
The Arabidopsis thaliana homolog of the helicase RTEL1 plays multiple roles in preserving genome stability.
Recker J, Knoll A, Puchta H. Recker J, et al. Plant Cell. 2014 Dec;26(12):4889-902. doi: 10.1105/tpc.114.132472. Epub 2014 Dec 16. Plant Cell. 2014. PMID: 25516598 Free PMC article.
In humans, mutations in the DNA helicase Regulator of Telomere Elongation Helicase1 (RTEL1) lead to Hoyeraal-Hreidarsson syndrome, a severe, multisystem disorder. Here, we demonstrate that the RTEL1 homolog in Arabidopsis thaliana plays multiple roles in pres …
In humans, mutations in the DNA helicase Regulator of Telomere Elongation Helicase1 (RTEL1) lead to Hoyeraal-Hreidarsson sy …
Pulmonary fibrosis in dyskeratosis congenita: report of 2 cases.
Dvorak LA, Vassallo R, Kirmani S, Johnson G, Hartman TE, Tazelaar HD, Leslie KO, Colby TV, Cockcroft DW, Churg AM, Yi ES. Dvorak LA, et al. Hum Pathol. 2015 Jan;46(1):147-52. doi: 10.1016/j.humpath.2014.10.003. Epub 2014 Oct 14. Hum Pathol. 2015. PMID: 25455995
Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
Kocak H, Ballew BJ, Bisht K, Eggebeen R, Hicks BD, Suman S, O'Neil A, Giri N; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group; Maillard I, Alter BP, Keegan CE, Nandakumar J, Savage SA. Kocak H, et al. Genes Dev. 2014 Oct 1;28(19):2090-102. doi: 10.1101/gad.248567.114. Epub 2014 Sep 18. Genes Dev. 2014. PMID: 25233904 Free PMC article.
DC is a clinically heterogeneous disorder diagnosed by the triad of dysplastic nails, abnormal skin pigmentation, and oral leukoplakia; Hoyeraal-Hreidarsson syndrome (HH), a clinically severe variant of DC, also includes cerebellar hypoplasia, immunodeficienc …
DC is a clinically heterogeneous disorder diagnosed by the triad of dysplastic nails, abnormal skin pigmentation, and oral leukoplakia; H …
Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.
Fedick AM, Shi L, Jalas C, Treff NR, Ekstein J, Kornreich R, Edelmann L, Mehta L, Savage SA. Fedick AM, et al. Clin Genet. 2015 Aug;88(2):177-81. doi: 10.1111/cge.12459. Epub 2014 Sep 5. Clin Genet. 2015. PMID: 25047097
Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by cerebellar hypoplasia, microcephaly, intrauterine growth retardation, and severe immunodeficiency in addition to features of DC. ...
Hoyeraal-Hreidarsson syndrome (HH) is a clinically severe variant of dyskeratosis congenita (DC), characterized by cere …
Human telomeres and telomere biology disorders.
Savage SA. Savage SA. Prog Mol Biol Transl Sci. 2014;125:41-66. doi: 10.1016/B978-0-12-397898-1.00002-5. Prog Mol Biol Transl Sci. 2014. PMID: 24993697 Review.
Broad phenotypic heterogeneity occurs within DC. Clinically severe variants of DC are Hoyeraal-Hreidarsson syndrome and Revesz syndrome. Coats plus syndrome joined the spectrum of DC with the discovery that it is caused by mutations in a telomere-capping gene …
Broad phenotypic heterogeneity occurs within DC. Clinically severe variants of DC are Hoyeraal-Hreidarsson syndrome and …
Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.
Lim BC, Yoo SK, Lee S, Shin JY, Hwang H, Chae JH, Hwang YS, Seo JS, Kim JI, Kim KJ. Lim BC, et al. Gene. 2014 Aug 10;546(2):425-9. doi: 10.1016/j.gene.2014.06.011. Epub 2014 Jun 7. Gene. 2014. PMID: 24914498
BACKGROUND: Hoyeraal-Hreidarsson syndrome is a severe multisystem disorder that is characterized by bone-marrow failure, intrauterine growth retardation, microcephaly, immunodeficiency, and cerebellar atrophy. ...Although skin pigmentation or nail dystrophy w …
BACKGROUND: Hoyeraal-Hreidarsson syndrome is a severe multisystem disorder that is characterized by bone-marrow failure …
RTEL1: functions of a disease-associated helicase.
Vannier JB, Sarek G, Boulton SJ. Vannier JB, et al. Trends Cell Biol. 2014 Jul;24(7):416-25. doi: 10.1016/j.tcb.2014.01.004. Epub 2014 Feb 25. Trends Cell Biol. 2014. PMID: 24582487 Review.
Mutations in RTEL1 have also been implicated in Hoyeraal-Hreidarsson syndrome, a severe form of the bone-marrow failure and cancer predisposition disorder, dyskeratosis congenita. ...
Mutations in RTEL1 have also been implicated in Hoyeraal-Hreidarsson syndrome, a severe form of the bone-marrow failure …
The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains.
Faure G, Revy P, Schertzer M, Londono-Vallejo A, Callebaut I. Faure G, et al. Proteins. 2014 Jun;82(6):897-903. doi: 10.1002/prot.24438. Epub 2013 Nov 22. Proteins. 2014. PMID: 24130156
Several studies have recently shown that germline mutations in RTEL1, an essential DNA helicase involved in telomere regulation and DNA repair, cause Hoyeraal-Hreidarsson syndrome (HHS), a severe form of dyskeratosis congenita. Using original new softwares, f …
Several studies have recently shown that germline mutations in RTEL1, an essential DNA helicase involved in telomere regulation and DNA repa …
Severity of X-linked dyskeratosis congenita (DKCX) cellular defects is not directly related to dyskerin (DKC1) activity in ribosomal RNA biogenesis or mRNA translation.
Thumati NR, Zeng XL, Au HH, Jang CJ, Jan E, Wong JM. Thumati NR, et al. Hum Mutat. 2013 Dec;34(12):1698-707. doi: 10.1002/humu.22447. Epub 2013 Oct 21. Hum Mutat. 2013. PMID: 24115260
Genetic lesions at the DKC1 locus are associated with X-linked dyskeratosis congenita (X-DC) and the Hoyeraal-Hreidarsson Syndrome (HHS). Both syndromes have been linked to deficient telomere maintenance, but little is known about the RNA modification activit …
Genetic lesions at the DKC1 locus are associated with X-linked dyskeratosis congenita (X-DC) and the Hoyeraal-Hreidarsson S …
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
Ballew BJ, Joseph V, De S, Sarek G, Vannier JB, Stracker T, Schrader KA, Small TN, O'Reilly R, Manschreck C, Harlan Fleischut MM, Zhang L, Sullivan J, Stratton K, Yeager M, Jacobs K, Giri N, Alter BP, Boland J, Burdett L, Offit K, Boulton SJ, Savage SA, Petrini JH. Ballew BJ, et al. PLoS Genet. 2013 Aug;9(8):e1003695. doi: 10.1371/journal.pgen.1003695. Epub 2013 Aug 29. PLoS Genet. 2013. PMID: 24009516 Free PMC article.
Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline mutations in telomere biology genes account for approximately one-half of known families. Hoyeraal Hreidarsson syndrome (HH) is a …
Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure and cancer predisposition syndrome in which germline mutations …
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.
Deng Z, Glousker G, Molczan A, Fox AJ, Lamm N, Dheekollu J, Weizman OE, Schertzer M, Wang Z, Vladimirova O, Schug J, Aker M, Londoño-Vallejo A, Kaestner KH, Lieberman PM, Tzfati Y. Deng Z, et al. Proc Natl Acad Sci U S A. 2013 Sep 3;110(36):E3408-16. doi: 10.1073/pnas.1300600110. Epub 2013 Aug 19. Proc Natl Acad Sci U S A. 2013. PMID: 23959892 Free PMC article.
Telomeres are elongated by telomerase in a tightly regulated manner to ensure a sufficient number of cell divisions throughout life, yet prevent unlimited cell division and cancer development. Hoyeraal-Hreidarsson syndrome (HHS) is characterized by accelerate …
Telomeres are elongated by telomerase in a tightly regulated manner to ensure a sufficient number of cell divisions throughout life, yet pre …
Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders.
Ballew BJ, Savage SA. Ballew BJ, et al. Expert Rev Hematol. 2013 Jun;6(3):327-37. doi: 10.1586/ehm.13.23. Expert Rev Hematol. 2013. PMID: 23782086 Review.
DC is one among the group of clinically and biologically related telomere biology disorders, including Hoyeraal-Hreidarsson syndrome, Revesz syndrome, Coats plus (also known as cranioretinal microangiopathy with calcifications and cysts) and subsets of aplast …
DC is one among the group of clinically and biologically related telomere biology disorders, including Hoyeraal-Hreidarsson …
Mutant mice lacking the p53 C-terminal domain model telomere syndromes.
Simeonova I, Jaber S, Draskovic I, Bardot B, Fang M, Bouarich-Bourimi R, Lejour V, Charbonnier L, Soudais C, Bourdon JC, Huerre M, Londono-Vallejo A, Toledo F. Simeonova I, et al. Cell Rep. 2013 Jun 27;3(6):2046-58. doi: 10.1016/j.celrep.2013.05.028. Epub 2013 Jun 13. Cell Rep. 2013. PMID: 23770245 Free article.
Indeed, p53delta31/delta31 mice had short telomeres and other phenotypic traits associated with the telomere disease dyskeratosis congenita and its severe variant the Hoyeraal-Hreidarsson syndrome. Heterozygous p53+/delta31 mice were only mildly affected, but …
Indeed, p53delta31/delta31 mice had short telomeres and other phenotypic traits associated with the telomere disease dyskeratosis congenita …
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.
Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, Carpentier W, Nitschke P, Picard C, Couillault G, Soulier J, Fischer A, Callebaut I, Jabado N, Londono-Vallejo A, de Villartay JP, Revy P. Le Guen T, et al. Hum Mol Genet. 2013 Aug 15;22(16):3239-49. doi: 10.1093/hmg/ddt178. Epub 2013 Apr 15. Hum Mol Genet. 2013. PMID: 23591994
Hoyeraal-Hreidarsson syndrome (HHS), a severe variant of dyskeratosis congenita (DC), is characterized by early onset bone marrow failure, immunodeficiency and developmental defects. ...
Hoyeraal-Hreidarsson syndrome (HHS), a severe variant of dyskeratosis congenita (DC), is characterized by early onset b …
A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome.
Gramatges MM, Qi X, Sasa GS, Chen JJ, Bertuch AA. Gramatges MM, et al. Blood. 2013 May 2;121(18):3586-93. doi: 10.1182/blood-2012-08-447755. Epub 2013 Mar 28. Blood. 2013. PMID: 23538340 Free PMC article.
Hoyeraal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intrauterine growth retardation, developmental delay, microcephaly, cerebellar hypoplasia, immunodeficiency, and extremely short telomeres. ...
Hoyeraal Hreidarsson syndrome (HHS) is a form of dyskeratosis congenita (DC) characterized by bone marrow failure, intr …
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
Walne AJ, Vulliamy T, Kirwan M, Plagnol V, Dokal I. Walne AJ, et al. Am J Hum Genet. 2013 Mar 7;92(3):448-53. doi: 10.1016/j.ajhg.2013.02.001. Epub 2013 Feb 28. Am J Hum Genet. 2013. PMID: 23453664 Free PMC article.
Dyskeratosis congenita (DC) and its phenotypically severe variant, Hoyeraal-Hreidarsson syndrome (HHS), are multisystem bone-marrow-failure syndromes in which the principal pathology is defective telomere maintenance. ...
Dyskeratosis congenita (DC) and its phenotypically severe variant, Hoyeraal-Hreidarsson syndrome (HHS), are multisystem …
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
Ballew BJ, Yeager M, Jacobs K, Giri N, Boland J, Burdett L, Alter BP, Savage SA. Ballew BJ, et al. Hum Genet. 2013 Apr;132(4):473-80. doi: 10.1007/s00439-013-1265-8. Epub 2013 Jan 18. Hum Genet. 2013. PMID: 23329068 Free PMC article. Clinical Trial.
The classic triad of dysplastic nails, abnormal skin pigmentation, and oral leukoplakia is diagnostic of DC, but substantial clinical heterogeneity exists; the clinically severe variant Hoyeraal Hreidarsson syndrome (HH) also includes cerebellar hypoplasia, s …
The classic triad of dysplastic nails, abnormal skin pigmentation, and oral leukoplakia is diagnostic of DC, but substantial clinical hetero …
[Dyskeratosis congenita: short telomeres are not the rule].
Touzot F, Le Guen T, de Villartay JP, Revy P. Touzot F, et al. Med Sci (Paris). 2012 Jun-Jul;28(6-7):618-24. doi: 10.1051/medsci/2012286015. Epub 2012 Jul 16. Med Sci (Paris). 2012. PMID: 22805138 Free article. Review. French.
Recent data from the study of patients with Hoyeraal-Hreidarsson syndrome, a severe variant of DC, demonstrate the great molecular heterogeneity of this disease. ...
Recent data from the study of patients with Hoyeraal-Hreidarsson syndrome, a severe variant of DC, demonstrate the grea …
Connecting complex disorders through biology.
Savage SA. Savage SA. Nat Genet. 2012 Feb 27;44(3):238-40. doi: 10.1038/ng.2206. Nat Genet. 2012. PMID: 22366859
This discovery provides an important pathophysiological link between Coats plus and the clinically related telomere disorders dyskeratosis congenita, Revesz syndrome and Hoyeraal-Hreidarsson syndrome....
This discovery provides an important pathophysiological link between Coats plus and the clinically related telomere disorders dyskeratosis c …
Dyskeratosis congenita.
Dokal I. Dokal I. Hematology Am Soc Hematol Educ Program. 2011;2011:480-6. doi: 10.1182/asheducation-2011.1.480. Hematology Am Soc Hematol Educ Program. 2011. PMID: 22160078 Review.
Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita.
Touzot F, Gaillard L, Vasquez N, Le Guen T, Bertrand Y, Bourhis J, Leblanc T, Fischer A, Soulier J, de Villartay JP, Revy P. Touzot F, et al. J Allergy Clin Immunol. 2012 Feb;129(2):473-82, 482.e1-3. doi: 10.1016/j.jaci.2011.09.043. Epub 2011 Nov 10. J Allergy Clin Immunol. 2012. PMID: 22078571
In human subjects telomere maintenance deficiency leads to dyskeratosis congenita (DC), a rare genetic disorder characterized by progressive bone marrow failure, accelerated aging, and cancer predisposition. Hoyeraal-Hreidarsson syndrome (HH) is a severe vari …
In human subjects telomere maintenance deficiency leads to dyskeratosis congenita (DC), a rare genetic disorder characterized by progressive …
Telomere dysfunction in human bone marrow failure syndromes.
Shtessel L, Ahmed S. Shtessel L, et al. Nucleus. 2011 Jan-Feb;2(1):24-9. doi: 10.4161/nucl.2.1.13993. Nucleus. 2011. PMID: 21647296 Free PMC article. Review.
Specifically, a new role for the SNM1B/Apollo nuclease in the pathologies of Hoyeraal-Hreidarsson syndrome will be discussed....
Specifically, a new role for the SNM1B/Apollo nuclease in the pathologies of Hoyeraal-Hreidarsson syndrome will be disc …
Congenital infection-like syndrome with intracranial calcification.
Mizuno Y, Takahashi K, Igarashi T, Saito M, Mizuguchi M. Mizuno Y, et al. Brain Dev. 2011 Jun;33(6):530-3. doi: 10.1016/j.braindev.2010.09.001. Epub 2010 Oct 5. Brain Dev. 2011. PMID: 20926212
Our patient had a phenotypic overlap with Aicardi-Goutieres syndrome and Hoyeraal-Hreidarsson syndrome, despite the absence of mutation in their responsible genes....
Our patient had a phenotypic overlap with Aicardi-Goutieres syndrome and Hoyeraal-Hreidarsson syndrome, despite the abs …
Dyskeratosis congenita.
Gupta V, Kumar A. Gupta V, et al. Adv Exp Med Biol. 2010;685:215-9. doi: 10.1007/978-1-4419-6448-9_20. Adv Exp Med Biol. 2010. PMID: 20687509 Free article. Review.
The disease has X-linked or autosomal dominant/recessive inheritance. Early childhood variants (Hoyeraal-Hreidarsson syndrome) are associated with immunological abnormalities in the form of low T- and B-cell numbers. ...
The disease has X-linked or autosomal dominant/recessive inheritance. Early childhood variants (Hoyeraal-Hreidarsson syndro …
Genomic instability in Hoyeraal-Hreidarsson syndrome.
Valera ET, Brassesco MS, Roxo P Jr, Lourenço CM, Scrideli CA, Ferriani VP, Tone LG, Vulliamy T, Sakamoto-Hojo ET. Valera ET, et al. Pediatr Blood Cancer. 2010 May;54(5):779-80. doi: 10.1002/pbc.22446. Pediatr Blood Cancer. 2010. PMID: 20205257 No abstract available.
Hoyeraal-Hreidarsson syndrome: magnetic resonance imaging findings.
Kuwashima S. Kuwashima S. Jpn J Radiol. 2009 Oct;27(8):324-7. doi: 10.1007/s11604-009-0344-1. Epub 2009 Oct 27. Jpn J Radiol. 2009. PMID: 19856229
Hoyeraal-Hreidarsson syndrome (HH) has been defined as a severe variant of dyskeratosis congenita (DKC). ...
Hoyeraal-Hreidarsson syndrome (HH) has been defined as a severe variant of dyskeratosis congenita (DKC). ...
Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome.
Lamm N, Ordan E, Shponkin R, Richler C, Aker M, Tzfati Y. Lamm N, et al. PLoS One. 2009 May 22;4(5):e5666. doi: 10.1371/journal.pone.0005666. PLoS One. 2009. PMID: 19461895 Free PMC article.
Dyskeratosis Congenita (DC) and its severe form Hoyeraal-Hreidarsson Syndrome (HHS) are genetic disorders mainly characterized by telomerase deficiency, accelerated telomere shortening, impaired cell proliferation, bone marrow failure, and immunodeficiency. . …
Dyskeratosis Congenita (DC) and its severe form Hoyeraal-Hreidarsson Syndrome (HHS) are genetic disorders mainly charac …
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