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A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction

Authors
 Seyoung Yu  ;  Hye Ji Choi  ;  Joon Suk Lee  ;  Hyun Jae Lee  ;  John Hoon Rim  ;  Jae Young Choi  ;  Heon Yung Gee  ;  Jinsei Jung 
Citation
 European Journal of Medical Genetics, Vol.62(1) : 81-84, 2019 
Journal Title
 European Journal of Medical Genetics 
ISSN
 1769-7212 
Issue Date
2019
Keywords
DFNB18 ; Mild hearing loss ; OTOG ; Otogelin ; Prelingual
Abstract
OTOG was identified as a nonsyndrmoic hearing loss gene in 2012 in two families with nonprogressive mild-to-moderate hearing loss. However, no further literature have this gene for nonsyndromic hearing loss. Furthermore, it is still unclear whether vestibular impairment is involved or not in patients with mutations in OTOG. This study presents a validated second report for homozygous causative mutations in OTOG of mild hearing loss. Whole exome sequencing (WES) was performed in a five-year-old male proband with mild hearing loss. The analysis of WES revealed a homozygous truncating mutation (c.330C > G; p.Tyr110*) in OTOG. The identified novel mutation, p.Tyr110*, leads to a null allele based on the fact that early truncated protein contains no functional domain of otogelin. While defects in otogelin previously reported to result in hearing loss and vestibular dysfunction, p.Tyr110* only caused nonsydromic and nonprogressive hearing loss without any vestibular impairment, indicating that vestibular phenotype would be variable. Given that mild hearing loss is not easy to be detected early, mutations of OTOG may be more prevalent than reported. Therefore, genetic evaluation for OTOG should be considered in children with mild hearing loss with/without vestibular dysfunction.
Full Text
https://www.sciencedirect.com/science/article/pii/S1769721217307619
DOI
10.1016/j.ejmg.2018.05.018
Appears in Collections:
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
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/167332
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