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Article

Identification of a novel truncation mutation of EYA4 in moderate degree hearing loss by targeted exome sequencing.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery - 1 May 2016

Choi Hyun Seok, Kim Ah Reum, Kim Shin Hye, Choi Byung Yoon

Abstract excerpt

The EYA4 gene encodes a 640-amino-acid protein that serves as a transcription factor. This protein contains a highly conserved Eya domain (eya-HR) and a variable domain (eya-VR). Mutations of this gene are known to cause postlingual and progressive sensorineural hearing loss, either as non-syndromic (DFNA10) or syndromic hearing loss, depending on the location of truncation of the mutant protein. Since our...

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Identifiers

PMID: 26015337
DOI: 10.1007/s00405-015-3661-2

Genes

EYA4
TES

Variants

Provenance

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