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Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)

✍ Scribed by Rob W.J. Collin; Robert J. Pauw; Jeroen Schoots; Patrick L.M. Huygen; Lies H. Hoefsloot; Cor W.R.J. Cremers; Hannie Kremer

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 227 KB
Volume: 140A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31354

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## Abstract Mutations within the __COCH__ gene (encoding the cochlin protein) lead to auditory and vestibular impairment in the __DFNA9__ disorder. In this study, we describe the genetic mapping of progressive autosomal dominant sensorineural hearing loss first affecting high‐frequency auditory thr