Article

Novel Loss-of-Function Mutations in <i>COCH</i> Cause Autosomal Recessive Nonsyndromic Deafness

2020-05-02

Abstract excerpt

COCH is the most abundantly expressed gene in the cochlea. Unsurprisingly, mutations in COCH underly deafness in mice and humans. Two forms of deafness are linked to mutations in COCH , the well-established autosomal dominant nonsyndromic hearing loss, with or without vestibular dysfunction (DFNA9) via a gain-of-function/dominant-negative mechanism, and more recently autosomal recessive nonsyndromic hearing loss...

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Literature Corpus work: 04e62188-3ac2-5d2b-b3a6-3f6ba0ea97d7
DOI: 10.1101/2020.04.30.071134

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