Cited 8 times in
A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction
DC Field | Value | Language |
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dc.contributor.author | 정진세 | - |
dc.contributor.author | 지헌영 | - |
dc.contributor.author | 최재영 | - |
dc.date.accessioned | 2019-02-14T01:59:42Z | - |
dc.date.available | 2019-02-14T01:59:42Z | - |
dc.date.issued | 2019 | - |
dc.identifier.issn | 1769-7212 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/167332 | - |
dc.description.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. | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | Elsevier | - |
dc.relation.isPartOf | EUROPEAN JOURNAL OF MEDICAL GENETICS | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.title | A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunction | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Otorhinolaryngology (이비인후과학교실) | - |
dc.contributor.googleauthor | Seyoung Yu | - |
dc.contributor.googleauthor | Hye Ji Choi | - |
dc.contributor.googleauthor | Joon Suk Lee | - |
dc.contributor.googleauthor | Hyun Jae Lee | - |
dc.contributor.googleauthor | John Hoon Rim | - |
dc.contributor.googleauthor | Jae Young Choi | - |
dc.contributor.googleauthor | Heon Yung Gee | - |
dc.contributor.googleauthor | Jinsei Jung | - |
dc.identifier.doi | 10.1016/j.ejmg.2018.05.018 | - |
dc.contributor.localId | A03742 | - |
dc.contributor.localId | A03971 | - |
dc.contributor.localId | A04173 | - |
dc.relation.journalcode | J03581 | - |
dc.identifier.eissn | 1878-0849 | - |
dc.identifier.pmid | 29800624 | - |
dc.identifier.url | https://www.sciencedirect.com/science/article/pii/S1769721217307619 | - |
dc.subject.keyword | DFNB18 | - |
dc.subject.keyword | Mild hearing loss | - |
dc.subject.keyword | OTOG | - |
dc.subject.keyword | Otogelin | - |
dc.subject.keyword | Prelingual | - |
dc.contributor.alternativeName | Jung, Jinsei | - |
dc.contributor.affiliatedAuthor | 정진세 | - |
dc.contributor.affiliatedAuthor | 지헌영 | - |
dc.contributor.affiliatedAuthor | 최재영 | - |
dc.citation.volume | 62 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 81 | - |
dc.citation.endPage | 84 | - |
dc.identifier.bibliographicCitation | EUROPEAN JOURNAL OF MEDICAL GENETICS , Vol.62(1) : 81-84, 2019 | - |
dc.identifier.rimsid | 61532 | - |
dc.type.rims | ART | - |
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