Case Report ARTICLE
A Novel Nonsense Mutation (c.414G>A; p.Trp138*) in CLDN14 Causes Hearing Loss in Yemeni Families: a case report
- 1Departament de Genètica i de Microbiologia Facultat de Biociències Universitat Autónoma de Barcelona, Spain
- 2University of Sharjah, United Arab Emirates
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.
Keywords: CLDN14 gene, clinical exome sequencing, nonsense mutation, Non syndromic hearing loss (NSHL), Founder effect
Received: 26 Jul 2019;
Accepted: 09 Oct 2019.
Copyright: © 2019 Mohamed, Tlili, Mahfood, Abdallah and Almutery. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Dr. Abdelaziz Tlili, University of Sharjah, Sharjah, United Arab Emirates, email@example.com