DC Field | Value | Language |
---|---|---|
dc.contributor.author | Chang, Mun Young | ko |
dc.contributor.author | Kim, Ah Reum | ko |
dc.contributor.author | Kim, Nayoung K. D. | ko |
dc.contributor.author | Lee, Chung | ko |
dc.contributor.author | Lee, Kyoung Yeul | ko |
dc.contributor.author | Jeon, Woo-Sung | ko |
dc.contributor.author | Koo, Ja-Won | ko |
dc.contributor.author | Oh, Seung Ha | ko |
dc.contributor.author | Park, Woong-Yang | ko |
dc.contributor.author | Kim, Dongsup | ko |
dc.contributor.author | Choi, Byung Yoon | ko |
dc.date.accessioned | 2016-04-15T02:59:20Z | - |
dc.date.available | 2016-04-15T02:59:20Z | - |
dc.date.created | 2015-11-30 | - |
dc.date.created | 2015-11-30 | - |
dc.date.issued | 2015-09 | - |
dc.identifier.citation | MOLECULES AND CELLS, v.38, no.9, pp.781 - 788 | - |
dc.identifier.issn | 1016-8478 | - |
dc.identifier.uri | http://hdl.handle.net/10203/203882 | - |
dc.description.abstract | Mutations of MY015A are generally known to cause severe to profound hearing loss throughout all frequencies. Here, we found two novel MY015A mutations, c.3871C>T (p.L1291F) and c.5835T>G (p.Y1945X) in an affected individual carrying congenital profound sensorineural hearing loss (SNHL) through targeted resequencing of 134 known deafness genes. The variant, p.L1291F and p.Y1945X, resided in the myosin motor and IQ2 domains, respectively. The p.L1291F variant was predicted to affect the structure of the actin-binding site from three-dimensional protein modeling, thereby interfering with the correct interaction between actin and myosin. From the literature analysis, mutations in the N-terminal domain were more frequently associated with residual hearing at low frequencies than mutations in the other regions of this gene. Therefore we suggest a hypothetical genotype-phenotype correlation whereby MY015A mutations that affect domains other than the N-terminal domain, lead to profound SNHL throughout all frequencies and mutations that affect the N-terminal domain, result in residual hearing at low frequencies. This genotype-phenotype correlation suggests that preservation of residual hearing during auditory rehabilitation like cochlear implantation should be intended for those who carry mutations in the N-terminal domain and that individuals with mutations elsewhere in MY015A require early cochlear implantation to timely initiate speech development. | - |
dc.language | English | - |
dc.publisher | KOREAN SOC MOLECULAR & CELLULAR BIOLOGY | - |
dc.subject | NONSYNDROMIC HEARING-LOSS | - |
dc.subject | UNCONVENTIONAL MYOSIN | - |
dc.subject | DEAFNESS DFNB3 | - |
dc.subject | MYO15A MUTATIONS | - |
dc.subject | GENETIC ETIOLOGY | - |
dc.subject | CELL STEREOCILIA | - |
dc.subject | MOTOR DOMAIN | - |
dc.subject | XVA | - |
dc.subject | POPULATION | - |
dc.subject | SHAKER-2 | - |
dc.title | Identification and Clinical Implications of Novel MY015A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing | - |
dc.type | Article | - |
dc.identifier.wosid | 000363381800006 | - |
dc.identifier.scopusid | 2-s2.0-84949988975 | - |
dc.type.rims | ART | - |
dc.citation.volume | 38 | - |
dc.citation.issue | 9 | - |
dc.citation.beginningpage | 781 | - |
dc.citation.endingpage | 788 | - |
dc.citation.publicationname | MOLECULES AND CELLS | - |
dc.contributor.localauthor | Kim, Dongsup | - |
dc.contributor.nonIdAuthor | Chang, Mun Young | - |
dc.contributor.nonIdAuthor | Kim, Ah Reum | - |
dc.contributor.nonIdAuthor | Kim, Nayoung K. D. | - |
dc.contributor.nonIdAuthor | Lee, Chung | - |
dc.contributor.nonIdAuthor | Jeon, Woo-Sung | - |
dc.contributor.nonIdAuthor | Koo, Ja-Won | - |
dc.contributor.nonIdAuthor | Oh, Seung Ha | - |
dc.contributor.nonIdAuthor | Park, Woong-Yang | - |
dc.contributor.nonIdAuthor | Choi, Byung Yoon | - |
dc.type.journalArticle | Article | - |
dc.subject.keywordAuthor | cochlear implantation | - |
dc.subject.keywordAuthor | mutation | - |
dc.subject.keywordAuthor | MYO15A | - |
dc.subject.keywordAuthor | nonsyndromic sensorineural hearing loss (NSHL) | - |
dc.subject.keywordPlus | NONSYNDROMIC HEARING-LOSS | - |
dc.subject.keywordPlus | UNCONVENTIONAL MYOSIN | - |
dc.subject.keywordPlus | DEAFNESS DFNB3 | - |
dc.subject.keywordPlus | MYO15A MUTATIONS | - |
dc.subject.keywordPlus | GENETIC ETIOLOGY | - |
dc.subject.keywordPlus | CELL STEREOCILIA | - |
dc.subject.keywordPlus | MOTOR DOMAIN | - |
dc.subject.keywordPlus | XVA | - |
dc.subject.keywordPlus | POPULATION | - |
dc.subject.keywordPlus | SHAKER-2 | - |
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