Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report.

ABSTRACT:

Background

Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene.

Case presentation

Family members underwent audiological and imaging evaluations, including pure tone audiometry and temporal bone computed tomography. Blood samples were collected from two affected and two unaffected subjects. To determine the genetic background of hearing loss in this family, genetic analysis was performed using whole-exome sequencing. Among 553 missense variants, c.2419A → C (p.Ser807Arg) in WFS1 remained after filtering and inspection of whole-exome sequencing data. This missense mutation segregated with affected status and demonstrated an alteration t

SUBMITTER: Choi HJ 

PROVIDER: S-EPMC5735594 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature