A Novel Nonsense Mutation (c.414G>A; p.Trp138*) in CLDN14 Causes Hearing Loss in Yemeni Families: A Case Report

Frontiers in Genetics

Sallam Hasan Abdallah²  Walaa Kamal Eldin Mohamed³  Mona Mahfood⁴  Abdullah Al Mutery⁵  Abdelaziz Tlili⁵ 

[1] Engineering, University of Sharjah,Sharjah, United Arab Emirates;;Stem Cells Research Group, Research Institute of Sciences &Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, Barcelona, Spain;Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah, United Arab Emirates;;Human Genetics &

关键词: CLDN14 gene;    clinical exome sequencing;    nonsense variant;    non-syndromic hearing loss;    founder effect;   

DOI  :  10.3389/fgene.2019.01087

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown