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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 to an evolutionarily conserved amino acid residue. Audiological evaluation of the affected subjects revealed nonprogressive LF-NSHL, with early onset at 10 years of age, but not to a profound level. CONCLUSION:This is the second report to describe a pathological mutation in WFS1 among Korean patients and the second to describe the mutation in a different ethnic background. Given that the mutation was found in independent families, p.S807R possibly appears to be a "hot spot" in WFS1, which is associated with LF-NSHL.

journal_name

BMC Med Genet

journal_title

BMC medical genetics

authors

Choi HJ,Lee JS,Yu S,Cha DH,Gee HY,Choi JY,Lee JD,Jung J

doi

10.1186/s12881-017-0511-7

subject

Has Abstract

pub_date

2017-12-19 00:00:00

pages

151

issue

1

issn

1471-2350

pii

10.1186/s12881-017-0511-7

journal_volume

18

pub_type

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