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Eur J Med Genet. 2019 Jan;62(1):81-84. doi: 10.1016/j.ejmg.2018.05.018. Epub 2018 May 22.

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

Author information

1
Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, 03722, Republic of Korea.
2
Department of Otorhinolaryngology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, 03722, Republic of Korea.
3
Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, 03722, Republic of Korea. Electronic address: hygee@yuhs.ac.
4
Department of Otorhinolaryngology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, 03722, Republic of Korea. Electronic address: jsjung@yuhs.ac.

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.

KEYWORDS:

DFNB18; Mild hearing loss; OTOG; Otogelin; Prelingual

PMID:
29800624
DOI:
10.1016/j.ejmg.2018.05.018
[Indexed for MEDLINE]

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