• Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss

    5 days ago - By Springer

    Abstract
    COCH is the most abundantly expressed gene in the cochlea. Unsurprisingly, mutations in COCH underly hearing loss in mice and humans. Two forms of hearing loss are linked to mutations in COCH , the well-established autosomal dominant nonsyndromic hearing loss, with or without vestibular dysfunction via a gain-of-function/dominant-negative mechanism, and more recently autosomal recessive nonsyndromic hearing loss via nonsense variants. Using a combination of targeted gene panels, exome sequencing, and functional studies, we identified four novel pathogenic variants (two nonsense...
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