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

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

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6 Citations (Scopus)


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.

Original languageEnglish
Article number151
JournalBMC Medical Genetics
Issue number1
Publication statusPublished - 2017 Dec 19

Bibliographical note

Funding Information:
This work was supported by the Korea Health Technology R&D Project, Ministry of Health & Welfare, Republic of Korea (HI16C0142 to J.J.) and the Soonchunhyang University Research Fund (L.J.D.).

Publisher Copyright:
© 2017 The Author(s).

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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