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Article

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

PloS one - 1 Jan 2014

Choi Byung Yoon, Kim Jiwoong, Chung Juyong, Kim Ah Reum, Mun Sue Jean, Kang Seong Il, Lee Sang-Heon, Kim Namshin, Oh Seung-Ha

Abstract excerpt

Postlingual 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...

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Source

Open in PubMed Open full text

Identifiers

PMID: 24816743
DOI: 10.1371/journal.pone.0097040
PMCID: PMC4016231

Genes

TECTA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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