دورية أكاديمية
أعرض في EDS

A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.

التفاصيل البيبلوغرافية
العنوان: A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.
المؤلفون: Sun J; Center for Reproduction and Genetics, NHC Key Laboratory of Male Reproduction and Genetics, Suzhou Municipal Hospital, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China., Yang N; Department of Pediatrics, LinShu People's Hospital, Linyi, China., Xu Z; Department of Orthopaedics, Suzhou Municipal Hospital, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China., Cheng H; Center for Reproduction and Genetics, NHC Key Laboratory of Male Reproduction and Genetics, Suzhou Municipal Hospital, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China., Zhang X; Department of Orthopaedics, Suzhou Municipal Hospital, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China.
المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Feb; Vol. 12 (2), pp. e2393.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [Hoboken, NJ] : John Wiley & Sons, [2013]-
مواضيع طبية MeSH: Brachydactyly*/genetics , Dwarfism*, Humans ; Codon, Nonsense ; Mutation ; Parathyroid Hormone-Related Protein/genetics
مستخلص: Background: Brachydactyly type E (BDE) is a general term characterized by variable shortening of metacarpals and metatarsals, with phalanges affected frequently. It can occur as an isolated form or part of syndromes and manifest a high degree of phenotypic variability. In this study, we have identified the clinical characteristics and pathogenic causes of a four-generation pedigree with 10 members affected by BDE and short stature.
Methods: After the informed consent was signed, clinical data and peripheral blood samples were collected from available family members. Karyotype analysis, array-CGH, next-generation sequencing, and Sanger sequencing were employed to identity the pathogenic candidate gene.
Results: No translocation or microdeletion/duplication was found in karyotype analysis and array-CGH; hence, a novel heterozygous mutation, c.146dupA. p.S50Vfs*22, was detected by next-generation sequencing in PTHLH gene, leading to a premature stop codon. Subsequently, the mutation was confirmed by Sanger sequencing and co-segregation analysis.
Conclusion: In this study, we described a novel heterozygous mutation (c.146dupA. p.S50Vfs*22) of gene PTHLH in a Chinese family. The mutation could induce a premature stop codon leading to a truncation of the protein. Our study broadened the mutation spectrum of PTHLH in BDE.
(© 2024 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
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معلومات مُعتمدة: SKY2022194 Suzhou Science and Technology Plan Projects
فهرسة مساهمة: Keywords: PTHLH; brachydactyly type E; mutation; next-generation sequencing
المشرفين على المادة: 0 (Codon, Nonsense)
0 (PTHLH protein, human)
0 (Parathyroid Hormone-Related Protein)
SCR Disease Name: Brachydactyly, Type E
تواريخ الأحداث: Date Created: 20240226 Date Completed: 20240227 Latest Revision: 20240229
رمز التحديث: 20240229
مُعرف محوري في PubMed: PMC10844838
DOI: 10.1002/mgg3.2393
PMID: 38407575
قاعدة البيانات: MEDLINE
الوصف
تدمد:2324-9269
DOI:10.1002/mgg3.2393