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Emerging genetic technologies informing personalized medicine in Shwachman-Diamond syndrome and other inherited BMF disorders.
Cull AH, Kent DG, Warren AJ. Cull AH, et al. Blood. 2024 Aug 29;144(9):931-939. doi: 10.1182/blood.2023019986. Blood. 2024. PMID: 38905596 Free article. Review.
Ribosomopathy Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive inherited bone marrow failure syndrome (IBMFS) caused by mutations in the Shwachman-Bodian-Diamond syndrome gene, which is associated with an increased risk of myeloid maligna …
Ribosomopathy Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive inherited bone marrow failure syndrome (IBMFS) caused by mutati …
Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.
Thompson AS, Giri N, Gianferante DM, Jones K, Savage SA, Alter BP, McReynolds LJ. Thompson AS, et al. Pediatr Res. 2022 Dec;92(6):1671-1680. doi: 10.1038/s41390-022-02009-8. Epub 2022 Mar 23. Pediatr Res. 2022. PMID: 35322185 Free PMC article. Review.
BACKGROUND AND OBJECTIVES: Shwachman Diamond syndrome (SDS) is an inherited bone marrow failure syndrome (IBMFS) associated with pancreatic insufficiency, neutropenia, and skeletal dysplasia. Biallelic pathogenic variants (PV) in SBDS account for >90% of SDS. We hypothe …
BACKGROUND AND OBJECTIVES: Shwachman Diamond syndrome (SDS) is an inherited bone marrow failure syndrome (IBMFS) associated with pancreatic …
Convergent somatic evolution commences in utero in a germline ribosomopathy.
Machado HE, Øbro NF, Williams N, Tan S, Boukerrou AZ, Davies M, Belmonte M, Mitchell E, Baxter EJ, Mende N, Clay A, Ancliff P, Köglmeier J, Killick SB, Kulasekararaj A, Meyer S, Laurenti E, Campbell PJ, Kent DG, Nangalia J, Warren AJ. Machado HE, et al. Nat Commun. 2023 Aug 22;14(1):5092. doi: 10.1038/s41467-023-40896-5. Nat Commun. 2023. PMID: 37608017 Free PMC article.
In ~30% of colonies, we identify mutually exclusive mutations in TP53, EIF6, RPL5, RPL22, PRPF8, plus chromosome 7 and 15 aberrations that increase SBDS and EFL1 gene dosage, respectively. Target gene mutations commence in utero, resulting in a profusion of clonal expansio …
In ~30% of colonies, we identify mutually exclusive mutations in TP53, EIF6, RPL5, RPL22, PRPF8, plus chromosome 7 and 15 aberrations that i …
Counteracting the Common Shwachman-Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing.
Peretto L, Tonetto E, Maestri I, Bezzerri V, Valli R, Cipolli M, Pinotti M, Balestra D. Peretto L, et al. Int J Mol Sci. 2023 Feb 16;24(4):4024. doi: 10.3390/ijms24044024. Int J Mol Sci. 2023. PMID: 36835434 Free PMC article.
Among all causative mutations, the SBDS c.258+2T>C variant at the 5' splice site (ss) of exon 2 is one of the most frequent. Here, we investigated the molecular mechanisms underlying aberrant SBDS splicing and showed that SBDS exon 2 is dense in splicing r …
Among all causative mutations, the SBDS c.258+2T>C variant at the 5' splice site (ss) of exon 2 is one of the most frequent. Here, …
SBDS interacts with RNF2 and is degraded through RNF2-dependent ubiquitination.
Sera Y, Sadoya M, Ichinose T, Matsuya S, Imanaka T, Yamaguchi M. Sera Y, et al. Biochem Biophys Res Commun. 2022 Apr 2;598:119-123. doi: 10.1016/j.bbrc.2022.02.014. Epub 2022 Feb 7. Biochem Biophys Res Commun. 2022. PMID: 35158210
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder caused by mutation in the Shwachman-Bodian-Diamond syndrome (SBDS) gene that has a variety of clinical features, including exocrine pancreatic insufficiency and hematological dy …
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder caused by mutation in the Shwachman-Bodian-Diamond …
Clinical features, epidemiology, and treatment of Shwachman-Diamond syndrome: a systematic review.
Han X, Lu S, Gu C, Bian Z, Xie X, Qiao X. Han X, et al. BMC Pediatr. 2023 Oct 6;23(1):503. doi: 10.1186/s12887-023-04324-3. BMC Pediatr. 2023. PMID: 37803383 Free PMC article.
METHODS: We searched the WangFang and China National Knowledge Infrastructure databases with the keywords "Shwachman-Diamond syndrome," "SDS," "SBDS gene" and "inherited bone marrow failure" for relevant articles published from January 2002 to October 2022. ...The detectio …
METHODS: We searched the WangFang and China National Knowledge Infrastructure databases with the keywords "Shwachman-Diamond syndrome," "SDS …
M phase-specific interaction between SBDS and RNF2 at the mitotic spindles regulates mitotic progression.
Sera Y, Imanaka T, Yamaguchi M. Sera Y, et al. Biochem Biophys Res Commun. 2023 Nov 19;682:118-123. doi: 10.1016/j.bbrc.2023.10.013. Epub 2023 Oct 4. Biochem Biophys Res Commun. 2023. PMID: 37806249
Shwachman-Diamond syndrome (SDS) is an autosomal recessive inherited disorder caused by biallelic mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene. SBDS protein is involved in ribosome biogenesis; therefore SDS is classified …
Shwachman-Diamond syndrome (SDS) is an autosomal recessive inherited disorder caused by biallelic mutations in the Shwachman-Bodia …
Reduced EIF6 dosage attenuates TP53 activation in models of Shwachman-Diamond syndrome.
Oyarbide U, Bezzerri V, Staton M, Boni C, Shah A, Cipolli M, Calo E, Corey SJ. Oyarbide U, et al. J Clin Invest. 2025 Feb 18;135(8):e187778. doi: 10.1172/JCI187778. eCollection 2025 Apr 15. J Clin Invest. 2025. PMID: 39964763 Free PMC article.
Almost all cases of SDS result from biallelic mutations in Shwachman-Bodian-Diamond syndrome (SBDS). SBDS interacts with elongation factor-like 1 (EFL1) to displace eukaryotic initiation factor 6 (EIF6) from the 60S ribosomal subunit. ... …
Almost all cases of SDS result from biallelic mutations in Shwachman-Bodian-Diamond syndrome (SBDS). S …
Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.
Kawashima N, Oyarbide U, Cipolli M, Bezzerri V, Corey SJ. Kawashima N, et al. Haematologica. 2023 Oct 1;108(10):2594-2605. doi: 10.3324/haematol.2023.282949. Haematologica. 2023. PMID: 37226705 Free PMC article.
Approximately 90% of patients have biallelic pathogenic variants in the SBDS gene located on human chromosome 7q11. Over the past several years, pathogenic variants in three other genes have been identified to cause similar phenotypes; these are DNAJC21, EFL1, and SRP54. . …
Approximately 90% of patients have biallelic pathogenic variants in the SBDS gene located on human chromosome 7q11. Over the past sev …
Site-specific labeling of SBDS to monitor interactions with the 60S ribosomal subunit.
Biswas A, Peng YF, Kaushik V, Origanti S. Biswas A, et al. Methods. 2023 Mar;211:68-72. doi: 10.1016/j.ymeth.2023.02.004. Epub 2023 Feb 11. Methods. 2023. PMID: 36781034 Free PMC article.
The Shwachman-Diamond syndrome (SDS) is a rare inherited ribosomopathy that is predominantly caused by mutations in the Shwachman-Bodian-Diamond Syndrome gene (SBDS). SBDS is a ribosomal maturation factor that is essential for the release …
The Shwachman-Diamond syndrome (SDS) is a rare inherited ribosomopathy that is predominantly caused by mutations in the Shwachman- …
41 results