Ontology highlight
ABSTRACT:
SUBMITTER: Modamio-Hoybjor S
PROVIDER: S-EPMC1867096 | biostudies-literature | 2007 Jun
REPOSITORIES: biostudies-literature
Modamio-Hoybjor Silvia S Mencia Angeles A Goodyear Richard R del Castillo Ignacio I Richardson Guy G Moreno Felipe F Moreno-Pelayo Miguel Angel MA
American journal of human genetics 20070424 6
We previously mapped a novel autosomal dominant deafness locus, DFNA44, by studying a family with postlingual, progressive, nonsyndromic hearing loss. We report here on the identification of a mutation in CCDC50 as the cause of hearing loss in the family. CCDC50 encodes Ymer, an effector of epidermal growth factor (EGF)-mediated cell signaling that is ubiquitously expressed in different organs and has been suggested to inhibit down-regulation of the EGF receptor. We have examined its expression ...[more]