Identification of a Novel WFS1 Mutation Using the Whole Exome Sequencing in an Iranian Pedigree with Autosomal Dominant Hearing Loss

Javad Mohammadi-Asl; Nader Saki; Masoud Dehdashtiyan; Mostafa Neissi; Farideh Ghanbari Mardasi

doi:10.22038/ijorl.2021.48471.2602

Identification of a Novel WFS1 Mutation Using the Whole Exome Sequencing in an Iranian Pedigree with Autosomal Dominant Hearing Loss

Iran J Otorhinolaryngol. 2021 May;33(116):173-176. doi: 10.22038/ijorl.2021.48471.2602.

Authors

Javad Mohammadi-Asl¹, Nader Saki², Masoud Dehdashtiyan³, Mostafa Neissi⁴, Farideh Ghanbari Mardasi⁵

Affiliations

¹ Noorgene Genetics Lab, Ahvaz, Iran.
² Hearing Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
³ Department of the Pediatrics, Imam Khomeini Hospital, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
⁴ Department of Genetics, Khuzestan Science and Research Branch, Islamic Azad University, Ahvaz, Iran. Department of Genetics, Ahvaz Branch, Islamic Azad University, Ahvaz, Iran.
⁵ Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

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.

Keywords: Hearing Loss; Next Generation Sequencing (NGS); Novel Mutation; WFS1; Whole Exome Sequencing (WES).

Publication types

Case Reports