Ontology highlight
ABSTRACT:
SUBMITTER: Booth KT
PROVIDER: S-EPMC7572817 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Booth Kevin T KT Ghaffar Amama A Rashid Muhammad M Hovey Luke T LT Hussain Mureed M Frees Kathy K Renkes Erika M EM Nishimura Carla J CJ Shahzad Mohsin M Smith Richard J RJ Ahmed Zubair Z Azaiez Hela H Riazuddin Saima S
Human genetics 20200619 12
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 (DFNA9) via a gain-of-function/dominant-negative mechanism, and more recently autosomal recessive nonsyndromic hearing loss (DFNB110) via nonsense variants. Using a combination of targeted gene panels, ...[more]