دورية أكاديمية
A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.
العنوان: | A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature. |
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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 |
تدمد: | 2324-9269 |
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DOI: | 10.1002/mgg3.2393 |