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Identification of a Novel Wfs1 Mutation Using the Whole Exome Sequencing in an Iranian Pedigree With Autosomal Dominant Hearing Loss Publisher



Mohammadiasl J1 ; Saki N2 ; Dehdashtiyan M3 ; Neissi M4, 5 ; Mardasi FG6
Authors

Source: Iranian Journal of Otorhinolaryngology Published:2021


Abstract

Introduction: Sensorineural hearing loss is the most frequent type of hearing impairment in the human population. Genetic factors account for over 60% of hearing loss in patients. This is a genetically heterogeneous sensorineural disorder. Case Report: We carried out whole exome sequencing (WES) to screen hearing loss candidate genes in a member of an Iranian family with hearing loss. The Sanger process was used to sequencing the variant in the family members. A novel mutation (c. 559C > T) was found in the WFS1 gene (in exon 5) in the patient leading to a heterozygous missense mutation (p.L187F). Furthermore, it co-segregated with HL in the family. All affected individuals in the family had severe-to-profound HL. Conclusion: This survey is the first to describe WFS1 related HL in the Iranian population. Our data propose that the WFS1-p.L187F mutation is the pathogenic variant for autosomal dominant nonsyndromic hearing loss. Our results extend the range of the WFS1 gene mutations. © 2021 Mashhad University of Medical Sciences. All rights reserved.
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