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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 
 BMC MEDICAL GENETICS, Vol.18(1) : 151, 2017 
Journal Title
Issue Date
Adolescent ; Asian Continental Ancestry Group/genetics ; Audiometry ; Deafness/genetics* ; Female ; Hearing Loss, Bilateral/genetics* ; Humans ; Male ; Membrane Proteins/genetics* ; Middle Aged ; Mutation, Missense/genetics* ; Republic of Korea ; Temporal Bone/diagnostic imaging ; Tomography, X-Ray Computed ; Whole Exome Sequencing
Autosomal dominant ; Low-frequency hearing loss ; Nonsyndromic hearing loss ; WFS1
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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1. College of Medicine (의과대학) > Dept. of Otorhinolaryngology (이비인후과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
Yonsei Authors
Jung, Jinsei(정진세) ORCID logo https://orcid.org/0000-0003-1906-6969
Gee, Heon Yung(지헌영) ORCID logo https://orcid.org/0000-0002-8741-6177
Choi, Jae Young(최재영) ORCID logo https://orcid.org/0000-0001-9493-3458
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