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

Autor:	Mohammadi-asl, Javad, Saki, Nader, Dehdashtiyan, Masoud, Neissi, Mostafa, Mardasi, Farideh Ghanbari
Předmět:	HEARING disorders SENSORINEURAL hearing loss AUDIOMETRY IRANIANS MISSENSE mutation RECESSIVE genes CONDUCTIVE hearing loss
Zdroj:	Iranian Journal of Otorhinolaryngology; May/Jun2021, Vol. 33 Issue 3, p173-176, 4p
Abstrakt:	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. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
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