دورية أكاديمية
أعرض في EDS

Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient.

التفاصيل البيبلوغرافية
العنوان: Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient.
المؤلفون: Wang H; Department of Pediatric Neurology, Shengjing Hospital of China Medical University, Shenyang, P.R. China., Huo L; Department of Pediatric Neurology, Shengjing Hospital of China Medical University, Shenyang, P.R. China., Wang Y; Chigene (Beijing) Translational Medical Research Center Co., Ltd., Beijing, P.R. China., Sun W; Chigene (Beijing) Translational Medical Research Center Co., Ltd., Beijing, P.R. China., Gu W; Chigene (Beijing) Translational Medical Research Center Co., Ltd., Beijing, P.R. China.
المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Oct; Vol. 9 (10), pp. e1779. Date of Electronic Publication: 2021 Aug 18.
نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic 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: Chromosomes, Human, Pair 1* , Paternal Inheritance* , Uniparental Disomy*, Glycogen Storage Disease Type III/*complications , Glycogen Storage Disease Type III/*diagnosis , Usher Syndromes/*complications , Usher Syndromes/*diagnosis, Adult ; Biomarkers ; Child, Preschool ; DNA Copy Number Variations ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Glycogen Debranching Enzyme System/chemistry ; Glycogen Debranching Enzyme System/genetics ; Glycogen Storage Disease Type III/etiology ; Glycogen Storage Disease Type III/metabolism ; Humans ; Male ; Middle Aged ; Models, Molecular ; Pedigree ; Sequence Analysis, DNA ; Structure-Activity Relationship ; Usher Syndromes/etiology ; Usher Syndromes/metabolism ; Exome Sequencing
مستخلص: Background: The condition of uniparental disomy (UPD) occurs when an individual inherits two copies of a chromosome, or part of a chromosome, from one parent. Most cases of uniparental heterodisomy (UPhD) do not cause diseases, whereas cases of uniparental isodisomy (UPiD), while rare, may be pathogenic. Theoretically, UPiD may cause rare genetic diseases in a homozygous recessive manner.
Methods: A 4-year-old girl presented with congenital hearing loss, developmental delay, hepatomegaly, and other clinical features. She and her parents were genetically tested using trio whole exome sequencing (Trio-WES) and copy number variation sequencing (CNV-seq). In addition, we built a structural model to further examine the pathogenicity of the UPiD variants.
Results: Trio-WES identified a paternal UPiD in chromosome 1, and two homozygous pathogenic variants AGL c.4284T>G/p.Tyr1428* and USH2A c.6528T>A/p.Tyr2176* in the UPiD region. We further analyzed the pathogenicity of these two variations. The patient was diagnosed with Usher syndrome type 2A (USH2A) and glycogen storage disease type III (GSD3).
Conclusions: Our study reports a rare case of a patient carrying two pathogenic variants of different genes caused by paternal UPiD, supporting the potential application of Trio-WES in detecting and facilitating the diagnosis of UPD.
(© 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
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فهرسة مساهمة: Keywords: GSD3; UPiD; USH2A; trio whole exome sequencing
المشرفين على المادة: 0 (Biomarkers)
0 (Glycogen Debranching Enzyme System)
SCR Disease Name: Usher syndrome, type 2A
تواريخ الأحداث: Date Created: 20210818 Date Completed: 20220322 Latest Revision: 20221207
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC8580083
DOI: 10.1002/mgg3.1779
PMID: 34405590
قاعدة البيانات: MEDLINE
الوصف
تدمد:2324-9269
DOI:10.1002/mgg3.1779