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

Document Type : Case Report

Authors

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

References

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Iranian Journal of Otorhinolaryngology
Volume 33, Issue 3
May and June 2021
Pages 173-176

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