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Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant
DC Field | Value | Language |
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dc.contributor.author | 나지나 | - |
dc.contributor.author | 정진세 | - |
dc.contributor.author | 지헌영 | - |
dc.contributor.author | 최재영 | - |
dc.date.accessioned | 2021-09-29T01:02:07Z | - |
dc.date.available | 2021-09-29T01:02:07Z | - |
dc.date.issued | 2021-05 | - |
dc.identifier.issn | 0378-5955 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/184155 | - |
dc.description.abstract | Autosomal recessive nonsyndromic hearing loss 3 (DFNB3) mainly leads to congenital and severe-to-profound hearing impairment, which is caused by variants in MYO15A. However, audiological heterogeneity in patients with DFNB3 hinders precision medicine in hearing rehabilitation. Here, we aimed to elucidate the heterogeneity of the auditory phenotypes of MYO15A variants according to the affected domain and the feasibilities for acoustic stimulation. We conducted whole-exome sequencing for 10 unrelated individuals from seven multiplex families with DFNB3; 11 MYO15A variants, including the novel frameshift c.900delT (p.Pro301Argfs*143) and nonsense c.4879G > T (p.Glu1627*) variants, were identified. In seven probands, residual hearing at low frequencies was significantly higher in the groups with one or two N-terminal frameshift variants in trans conformation compared to that in the group without these variants. This is consistent with the 56 individuals from the previously published reports that carried a varying number of N-terminal truncating variants in MYO15A. In addition, patients with missense variants in the second FERM domain had better hearing at low frequencies than patients without these variants. Subsequently, acoustic stimulation provided by devices such as hearing aids or cochlear implants was feasible in patients with one or two N-terminal truncating variants or a second FERM missense variant. In conclusion, N-terminal or second FERM variants in MYO15A allow the practical use of acoustic stimulation through hearing aids or electroacoustic stimulation for aural rehabilitation. | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | Elsevier/North-Holland Biomedical Press. | - |
dc.relation.isPartOf | HEARING RESEARCH | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Otorhinolaryngology (이비인후과학교실) | - |
dc.contributor.googleauthor | Gina Na | - |
dc.contributor.googleauthor | Hye Ji Choi | - |
dc.contributor.googleauthor | Sun Young Joo | - |
dc.contributor.googleauthor | John Hoon Rim | - |
dc.contributor.googleauthor | Jung Ah Kim | - |
dc.contributor.googleauthor | Hye-Youn Kim | - |
dc.contributor.googleauthor | Seyoung Yu | - |
dc.contributor.googleauthor | Yeonsu Jeong | - |
dc.contributor.googleauthor | Geun Cheol Shin | - |
dc.contributor.googleauthor | Hae Eun Noh | - |
dc.contributor.googleauthor | Ho Young Lee | - |
dc.contributor.googleauthor | Da Hye Kim | - |
dc.contributor.googleauthor | Heon Yung Gee | - |
dc.contributor.googleauthor | Jinsei Jung | - |
dc.contributor.googleauthor | Jae Young Choi | - |
dc.identifier.doi | 10.1016/j.heares.2021.108227 | - |
dc.contributor.localId | A04923 | - |
dc.contributor.localId | A03742 | - |
dc.contributor.localId | A03971 | - |
dc.contributor.localId | A04173 | - |
dc.relation.journalcode | J00975 | - |
dc.identifier.eissn | 1878-5891 | - |
dc.identifier.pmid | 33784549 | - |
dc.identifier.url | https://www.sciencedirect.com/science/article/pii/S0378595521000617 | - |
dc.subject.keyword | Cochlear implant | - |
dc.subject.keyword | DFNB3 | - |
dc.subject.keyword | Electroacoustic stimulation | - |
dc.subject.keyword | Genetic hearing loss | - |
dc.subject.keyword | Hearing aid | - |
dc.subject.keyword | MYO15A | - |
dc.subject.keyword | Precision medicine | - |
dc.subject.keyword | Residual hearing | - |
dc.contributor.alternativeName | Na, Gina | - |
dc.contributor.affiliatedAuthor | 나지나 | - |
dc.contributor.affiliatedAuthor | 정진세 | - |
dc.contributor.affiliatedAuthor | 지헌영 | - |
dc.contributor.affiliatedAuthor | 최재영 | - |
dc.citation.volume | 404 | - |
dc.citation.startPage | 108277 | - |
dc.identifier.bibliographicCitation | HEARING RESEARCH, Vol.404 : 108277, 2021-05 | - |
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