Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA

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dc.contributor.authorB Y Choi-
dc.contributor.authorJiwoong Kim-
dc.contributor.authorJ Chung-
dc.contributor.authorA R Kim-
dc.contributor.authorS J Mun-
dc.contributor.authorS I Kang-
dc.contributor.authorSang Heon Lee-
dc.contributor.authorNamshin Kim-
dc.contributor.authorS H Oh-
dc.date.accessioned2017-04-19T09:52:57Z-
dc.date.available2017-04-19T09:52:57Z-
dc.date.issued2014-
dc.identifier.issn19326203-
dc.identifier.uri10.1371/journal.pone.0097040ko
dc.identifier.urihttps://oak.kribb.re.kr/handle/201005/11969-
dc.description.abstractPostlingual progressive hearing loss, affecting primarily the high frequencies, is the clinical finding in most cases of autosomal dominant nonsyndromic hearing loss (ADNSHL). The molecular genetic etiology of ADNSHL is extremely heterogeneous. We applied whole-exome sequencing to reveal the genetic etiology of high-frequency hearing loss in a mid-sized Korean family without any prior linkage data. Whole-exome sequencing of four family members (two affected and two unaffected), together with our filtering strategy based on comprehensive bioinformatics analyses, identified 21 potential pathogenic candidates. Sanger validation of an additional five family members excluded 20 variants, leaving only one novel variant, TECTA c.710C>T (p.T237I), as the strongest candidate. This variant resides in the entactin (ENT) domain and co-segregated perfectly with non-progressive high-frequency hearing loss in the family. It was absent among 700 ethnically matched control chromosomes, and the T237 residue is conserved among species, which supports its pathogenicity. Interestingly, this finding contrasted with a previously proposed genotype-phenotype correlation in which variants of the ENT domain of TECTA were associated with mid-frequency hearing loss. Based upon what we observed, we propose a novel "genotype to phenotype" correlation in the ENT domain of TECTA. Our results shed light on another important application of whole-exome sequencing: the establishment of a novel genotype-phenotype in the molecular genetic diagnosis of autosomal dominant hearing loss.-
dc.publisherPublic Library of Science-
dc.titleWhole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA-
dc.title.alternativeWhole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA-
dc.typeArticle-
dc.citation.titlePLoS One-
dc.citation.number5-
dc.citation.endPagee97040-
dc.citation.startPagee97040-
dc.citation.volume9-
dc.contributor.affiliatedAuthorNamshin Kim-
dc.contributor.alternativeName최병윤-
dc.contributor.alternativeName김지웅-
dc.contributor.alternativeName정주용-
dc.contributor.alternativeName김아름-
dc.contributor.alternativeName문수진-
dc.contributor.alternativeName강성일-
dc.contributor.alternativeName이상헌-
dc.contributor.alternativeName김남신-
dc.contributor.alternativeName오승하-
dc.identifier.bibliographicCitationPLoS One, vol. 9, no. 5, pp. e97040-e97040-
dc.identifier.doi10.1371/journal.pone.0097040-
dc.description.journalClassY-
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Division of Biomedical Research > Genome Editing Research Center > 1. Journal Articles
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