Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis

The Annals of Otology, Rhinology, and Laryngology
Maiko MiyagawaShin-Ichi Usami

Abstract

Screening for MYO15A mutations was carried out using a large cohort to clarify the frequency and clinical characteristics of patients with MYO15A (DFNB3) mutations in a hearing loss population. Genetic analysis of 63 previously reported deafness genes based on massively parallel DNA sequencing (MPS) in 1120 Japanese hearing loss patients from 53 otorhinolaryngology departments was performed. Detailed clinical features of the patients with MYO15A mutations were then collected and analyzed. Eleven patients from 10 families were found to have compound heterozygosity for MYO15A. Audiograms showed profound or high frequency hearing loss, with some patients showing progressive hearing loss. Age at onset was found to vary from 0 to 14 years, which seemed to be associated with the mutation. Four children underwent bilateral cochlear implantation for congenital hearing loss, with all showing good results. Mutations in the MYO15A gene are a notable cause of nonsyndromic hearing loss. MPS technology successfully detected mutations in relatively rare deafness genes such as MYO15A.

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Citations

Jul 5, 2016·Human Mutation·Atteeq U RehmanThomas B Friedman
Oct 14, 2016·Journal of Human Genetics·Flavia PalomboGiovanni Romeo
Dec 22, 2016·European Journal of Human Genetics : EJHG·Celia Zazo SecoHelger G Yntema
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Jul 30, 2021·The Journal of Molecular Diagnostics : JMD·Yi-Hsin LinPei-Lung Chen

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Software Mentioned

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Torrent Variant Caller
Polymorphism Phenotyping PolyPhen2
MutationTaster
wANNOVAR
ANNOVAR
Torrent Mapping Alignment Program
Mutation Assessor

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