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

Iranian journal of otorhinolaryngology（2021）

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摘要

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.

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关键词

Hearing Loss,Next Generation Sequencing (NGS),Novel Mutation,WFS1,Whole Exome Sequencing (WES)

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