Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients.

Yoh-Ichiro Iwasa,Shin-Ya Nishio,Shin-Ichi Usami,Sangdun Choi

doi:10.1371/journal.pone.0166781

Yoh-Ichiro Iwasa, Shin-Ya Nishio + Show 2 more

Open Access

https://doi.org/10.1371/journal.pone.0166781

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Journal: PloS one	Publication Date: Dec 2, 2016
Citations: 19	License type: CC BY 4.0

Affiliation: Shinshu University

Abstract

BackgroundIn general, autosomal dominant inherited hearing loss does not have a founder mutation, with the causative mutation different in each family. For this reason, there has been a strong need for efficient diagnosis methods for autosomal dominant sensorineural hearing loss (ADSNHL) patients. This study sought to verify the effectiveness of our analysis algorithm for the screening of ADSNHL patients as well as the usefulness of the massively parallel DNA sequencing (MPS).Subjects and MethodsSeventy-five Japanese ADSNHL patients from 53 ENT departments nationwide participated in this study. We conducted genetic analysis of 75 ADSNHL patients using the Invader assay, TaqMan genotyping assay and MPS-based genetic screening.ResultsA total of 46 (61.3%) ADSNHL patients were found to have at least one candidate gene variant.ConclusionWe were able to achieve a high mutation detection rate through the combination of the Invader assay, TaqMan genotyping assay and MPS. MPS could be used to successfully identify mutations in rare deafness genes.

Highlights

Hearing loss is one of the most frequent congenital disorders in infants, with one out of every 500 newborns having bilateral hearing loss[1]
While the invader assay and TaqMan genotyping assay can effectively detect the variants frequently found in Japanese patients based on the large data set of the Japanese hearing loss patients[4], massively parallel DNA sequencing (MPS) can further analyze a large number of genes comprehensively
Seventy-five Japanese autosomal dominant sensorineural hearing loss (ADSNHL) patients from 53 ear nose throat (ENT) departments nationwide participated in this study

Summary

Background

Autosomal dominant inherited hearing loss does not have a founder mutation, with the causative mutation different in each family. For this reason, there has been a strong need for efficient diagnosis methods for autosomal dominant sensorineural hearing loss (ADSNHL) patients. This study sought to verify the effectiveness of our analysis algorithm for the screening of ADSNHL patients as well as the usefulness of the massively parallel DNA sequencing (MPS)

Subjects and Methods

Introduction

Discussion