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Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome.
Abdullah, Yousaf M, Azeem Z, Bilal M, Liaqat K, Hussain S, Ahmad F, Ghous T, Ullah A, Ahmad W. Abdullah, et al. Genet Test Mol Biomarkers. 2019 Oct;23(10):744-750. doi: 10.1089/gtmb.2019.0071. Epub 2019 Oct 1. Genet Test Mol Biomarkers. 2019. PMID: 31573334
Background: Greig cephalopolysyndactyly syndrome (GCPS) is a disorder of autopod and craniofacial abnormalities. ...
Background: Greig cephalopolysyndactyly syndrome (GCPS) is a disorder of autopod and craniofacial abnormalities. ...
Prenatal diagnosis of Greig Cephalopolysyndactyly Syndrome. When to suspect it.
Garcia-Rodriguez R, Rodriguez-Rodriguez R, Garcia-Delgado R, Romero-Requejo A, Medina-Castellano M, Garcia Cruz L, Santana Rodriguez A, Garcia-Hernandez JA. Garcia-Rodriguez R, et al. J Matern Fetal Neonatal Med. 2022 Jun;35(11):2162-2165. doi: 10.1080/14767058.2020.1774541. Epub 2020 Jun 4. J Matern Fetal Neonatal Med. 2022. PMID: 32495660
Greig Cephalopolysyndactyly Syndrome (GCPS) is a very rare multiple congenital anomaly with an estimated incidence of 1-9:1,000,000 in newborns with principal findings of macrocephaly, ocular hypertelorism, and polysyndactyly (preaxial or mixed preaxial and p …
Greig Cephalopolysyndactyly Syndrome (GCPS) is a very rare multiple congenital anomaly with an estimated incidence of 1 …
Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family.
Siavrienė E, Mikštienė V, Radzevičius D, Maldžienė Ž, Rančelis T, Petraitytė G, Tamulytė G, Kavaliauskienė I, Šarkinas L, Utkus A, Kučinskas V, Preikšaitienė E. Siavrienė E, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e878. doi: 10.1002/mgg3.878. Epub 2019 Jul 20. Mol Genet Genomic Med. 2019. PMID: 31325247 Free PMC article.
We present three generations of a family with preaxial polydactyly type IV and other clinical features of Greig cephalopolysyndactyly syndrome (GCPS). METHODS AND RESULTS: Sequencing analysis of the GLI3 coding region identified a novel donor splice site vari …
We present three generations of a family with preaxial polydactyly type IV and other clinical features of Greig cephalopolysyndact …
Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report.
Siracusano M, Riccioni A, Baratta A, Baldi M, Curatolo P, Mazzone L. Siracusano M, et al. J Med Case Rep. 2019 Apr 23;13(1):100. doi: 10.1186/s13256-019-2043-6. J Med Case Rep. 2019. PMID: 31010437 Free PMC article.
BACKGROUND: Greig cephalopolysyndactyly syndrome is a rare multiple congenital anomaly syndrome characterized by the triad of polysyndactyly (preaxial or mixed preaxial and postaxial), macrocephaly, and ocular hypertelorism. ...Further research is required in …
BACKGROUND: Greig cephalopolysyndactyly syndrome is a rare multiple congenital anomaly syndrome characterized by the tr …
The association of Greig syndrome and mastocytosis reveals the involvement of the hedgehog pathway in advanced mastocytosis.
Polivka L, Parietti V, Bruneau J, Soucie E, Madrange M, Bayard E, Rignault R, Canioni D, Fraitag S, Lhermitte L, Feroul M, Tissandier M, Rossignol J, Frenzel L, Cagnard N, Meni C, Bouktit H, Collange AF, Gougoula C, Parisot M, Bader-Meunier B, Livideanu C, Laurent C, Arock M, Hadj-Rabia S, Rüther U, Dubreuil P, Bodemer C, Hermine O, Maouche-Chrétien L. Polivka L, et al. Blood. 2021 Dec 9;138(23):2396-2407. doi: 10.1182/blood.2020010207. Blood. 2021. PMID: 34424959 Free article.
Although a somatic KIT D816V mutation is detected in 85% of patients, attempts to demonstrate its oncogenic effect alone have repeatedly failed, suggesting that additional pathways are involved in MC transformation. From 3 children presenting with both Greig cephalopol …
Although a somatic KIT D816V mutation is detected in 85% of patients, attempts to demonstrate its oncogenic effect alone have repeatedly fa …
Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review.
Kozma K, Bembea M, Jurca CM, Ioana M, Streață I, Şoşoi SŞ, Pirvu A, Petchesi CD, Szilágyi A, Sava CN, Jurca A, Ujfalusi A, Szűcs Z, Szakszon K. Kozma K, et al. Genes (Basel). 2021 Oct 23;12(11):1674. doi: 10.3390/genes12111674. Genes (Basel). 2021. PMID: 34828280 Free PMC article. Review.
Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder (about 200 cases reported), characterized by macrocephaly, hypertelorism, and polysyndactyly. ...
Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder (about 200 cases reported), characterized by mac …
Variable phenotypes in Greig cephalopolysyndactyly sydrome (GCPS) and their relevance to plastic surgery.
Curran TA, Cronin K. Curran TA, et al. Ir J Med Sci. 2016 Aug;185(3):745-748. doi: 10.1007/s11845-015-1279-4. Epub 2015 Mar 17. Ir J Med Sci. 2016. PMID: 25777356
BACKGROUND: Greig cephalopolysyndactyly syndrome (GCPS) is an uncommon entity characterised by polysyndactyly and craniofacial features. ...
BACKGROUND: Greig cephalopolysyndactyly syndrome (GCPS) is an uncommon entity characterised by polysyndactyly and crani …
Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.
Pagnamenta AT, Yu J, Evans J, Twiss P; Genomics England Research Consortium; Musculoskeletal GeCIP MDT; Offiah AC, Wafik M, Mehta SG, Javaid MK, Smithson SF, Taylor JC. Pagnamenta AT, et al. J Med Genet. 2023 May;60(5):505-510. doi: 10.1136/jmg-2022-108753. Epub 2022 Nov 21. J Med Genet. 2023. PMID: 36411030 Free PMC article.
In two families, inverted segments of 1.2/14.8 Mb unequivocally disrupted GLI3 and segregated with skeletal features consistent with Greig cephalopolysyndactyly syndrome. For one family, phenotypic blending was due to the opposing breakpoint lying ~45 kb from …
In two families, inverted segments of 1.2/14.8 Mb unequivocally disrupted GLI3 and segregated with skeletal features consistent with Grei …
A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote.
Kariminejad A, Ghaderi-Sohi S, Keshavarz E, Hashemi SA, Parsimehr E, Szenker-Ravi E, Khatoo M, Faraji Zonooz M, Reversade B, Najmabadi H, Hennekam RC. Kariminejad A, et al. Clin Genet. 2020 Jun;97(6):915-919. doi: 10.1111/cge.13730. Epub 2020 Mar 10. Clin Genet. 2020. PMID: 32112393
Variants in transcriptional activator Gli Kruppel Family Member 3 (GLI3) have been reported to be associated with several phenotypes including Greig cephalopolysyndactyly syndrome (MIM #175700), Pallister-Hall syndrome (PHS) (MIM #146510), postaxial polydacty …
Variants in transcriptional activator Gli Kruppel Family Member 3 (GLI3) have been reported to be associated with several phenotypes includi …
Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.
Baas M, Burger EB, van den Ouweland AM, Hovius SE, de Klein A, van Nieuwenhoven CA, Galjaard RJH. Baas M, et al. J Med Genet. 2021 Jun;58(6):362-368. doi: 10.1136/jmedgenet-2020-106948. Epub 2020 Jun 26. J Med Genet. 2021. PMID: 32591344 Free PMC article.
INTRODUCTION: Pathogenic DNA variants in the GLI-Kruppel family member 3 (GLI3) gene are known to cause multiple syndromes: for example, Greig syndrome, preaxial polydactyly-type 4 (PPD4) and Pallister-Hall syndrome. Out of these, Pallister-Hall is a different entit …
INTRODUCTION: Pathogenic DNA variants in the GLI-Kruppel family member 3 (GLI3) gene are known to cause multiple syndromes: for example, …
23 results