A Novel nonsense mutation (c.414G>A; p.Trp138*) in CLDN14 causes hearing loss in Yemeni families : a case report
Mohamed, Kamal Eldin Walaa (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia)
Mahfood, Mona (University of Sharjah. Department of Applied Biology)
Mutery, Abdullah (University of Sharjah. Department of Applied Biology)
Abdallah, Sallam Hasan (University of Sharjah. Research Institute of Sciences & Engineering)
Tlili, Abdelaziz (University of Sharjah. Research Institute of Sciences & Engineering)

Fecha:	2019
Resumen:	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.
Derechos:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Lengua:	Anglès
Documento:	Article ; recerca ; Versió publicada
Materia:	CLDN14 gene ; Clinical exome sequencing ; Nonsense variant ; Non-syndromic hearing loss ; Founder effect
Publicado en:	Frontiers in genetics, Vol. 10 (Nov. 2019) , art. 1087, ISSN 1664-8021

DOI: 10.3389/fgene.2019.01087
PMID: 31781163

7 p, 1.2 MB

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