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BMC Medical Genetics

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Open Access 01-12-2017 | Case report

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

Authors: Hye Ji Choi, Joon Suk Lee, Seyoung Yu, Do Hyeon Cha, Heon Yung Gee, Jae Young Choi, Jong Dae Lee, Jinsei Jung

Published in: BMC Medical Genetics | Issue 1/2017

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.

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Title: Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report
Authors: Hye Ji Choi
Joon Suk Lee
Seyoung Yu
Do Hyeon Cha
Heon Yung Gee
Jae Young Choi
Jong Dae Lee
Jinsei Jung
Publication date: 01-12-2017
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2017
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/s12881-017-0511-7

At a glance: The STEP trials

Springer Medicine

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

Abstract

Background

Case presentation

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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