تقرير
A Novel Nonsense Mutation (c.414G>A; p.Trp138*) in CLDN14 Causes Hearing Loss in Yemeni Families: A Case Report.
| العنوان: | A Novel Nonsense Mutation (c.414G>A; p.Trp138*) in CLDN14 Causes Hearing Loss in Yemeni Families: A Case Report. |
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| المؤلفون: | Mohamed WKE; Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.; Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, Barcelona, Spain., Mahfood M; Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates., Al Mutery A; Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.; Human Genetics & Stem Cells Research Group, Research Institute of Sciences & Engineering, University of Sharjah, Sharjah, United Arab Emirates., Abdallah SH; Human Genetics & Stem Cells Research Group, Research Institute of Sciences & Engineering, University of Sharjah, Sharjah, United Arab Emirates., Tlili A; Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates.; Human Genetics & Stem Cells Research Group, Research Institute of Sciences & Engineering, University of Sharjah, Sharjah, United Arab Emirates. |
| المصدر: | Frontiers in genetics [Front Genet] 2019 Nov 08; Vol. 10, pp. 1087. Date of Electronic Publication: 2019 Nov 08 (Print Publication: 2019). |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Lausanne : Frontiers Research Foundation. |
| مستخلص: | Non-syndromic hearing loss (NSHL) is a hereditary disorder that affects many populations. Many genes are involved in NSHL and the mutational load of these genes often differs among ethnic groups. Claudin-14 ( CLDN14 ), a tight junction protein, is known to be associated with NSHL in many populations. In this study, we aimed to identify the responsible variants in 3 different Yemeni families affected with NSHL. Firstly, clinical exome sequencing (CES) performed for 3 affected patients from these different families identified a new nonsense variant (c.414G > A) in CLDN14 . This variant was then confirmed by Sanger sequencing and PCR-RFLP. Subsequently, four microsatellite markers were used to genotype these families, which revealed a founder effect for this variant. Overall, this study illustrates the implication of the CLDN14 gene in the Yemeni population with NSHL and identifies a new founder variant. (Copyright © 2019 Mohamed, Mahfood, Al Mutery, Abdallah and Tlili.) |
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| فهرسة مساهمة: | Keywords: CLDN14 gene; clinical exome sequencing; founder effect; non-syndromic hearing loss; nonsense variant |
| تواريخ الأحداث: | Date Created: 20191130 Latest Revision: 20201001 |
| رمز التحديث: | 20221213 |
| مُعرف محوري في PubMed: | PMC6856671 |
| DOI: | 10.3389/fgene.2019.01087 |
| PMID: | 31781163 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1664-8021 |
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| DOI: | 10.3389/fgene.2019.01087 |