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Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant

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dc.contributor.author나지나-
dc.contributor.author정진세-
dc.contributor.author지헌영-
dc.contributor.author최재영-
dc.date.accessioned2021-09-29T01:02:07Z-
dc.date.available2021-09-29T01:02:07Z-
dc.date.issued2021-05-
dc.identifier.issn0378-5955-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/184155-
dc.description.abstractAutosomal 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.statementOfResponsibilityrestriction-
dc.languageEnglish-
dc.publisherElsevier/North-Holland Biomedical Press.-
dc.relation.isPartOfHEARING RESEARCH-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.titleHeterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Otorhinolaryngology (이비인후과학교실)-
dc.contributor.googleauthorGina Na-
dc.contributor.googleauthorHye Ji Choi-
dc.contributor.googleauthorSun Young Joo-
dc.contributor.googleauthorJohn Hoon Rim-
dc.contributor.googleauthorJung Ah Kim-
dc.contributor.googleauthorHye-Youn Kim-
dc.contributor.googleauthorSeyoung Yu-
dc.contributor.googleauthorYeonsu Jeong-
dc.contributor.googleauthorGeun Cheol Shin-
dc.contributor.googleauthorHae Eun Noh-
dc.contributor.googleauthorHo Young Lee-
dc.contributor.googleauthorDa Hye Kim-
dc.contributor.googleauthorHeon Yung Gee-
dc.contributor.googleauthorJinsei Jung-
dc.contributor.googleauthorJae Young Choi-
dc.identifier.doi10.1016/j.heares.2021.108227-
dc.contributor.localIdA04923-
dc.contributor.localIdA03742-
dc.contributor.localIdA03971-
dc.contributor.localIdA04173-
dc.relation.journalcodeJ00975-
dc.identifier.eissn1878-5891-
dc.identifier.pmid33784549-
dc.identifier.urlhttps://www.sciencedirect.com/science/article/pii/S0378595521000617-
dc.subject.keywordCochlear implant-
dc.subject.keywordDFNB3-
dc.subject.keywordElectroacoustic stimulation-
dc.subject.keywordGenetic hearing loss-
dc.subject.keywordHearing aid-
dc.subject.keywordMYO15A-
dc.subject.keywordPrecision medicine-
dc.subject.keywordResidual hearing-
dc.contributor.alternativeNameNa, Gina-
dc.contributor.affiliatedAuthor나지나-
dc.contributor.affiliatedAuthor정진세-
dc.contributor.affiliatedAuthor지헌영-
dc.contributor.affiliatedAuthor최재영-
dc.citation.volume404-
dc.citation.startPage108277-
dc.identifier.bibliographicCitationHEARING RESEARCH, Vol.404 : 108277, 2021-05-
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

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