DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

ABSTRACT: The inner ear is a very complex sensory organ whose development and function depend on finely balanced interactions among diverse cell types. The many different kinds of inner ear supporting cells play the essential roles of providing physical and physiological support to sensory hair cells and of maintaining cochlear homeostasis. Appropriately enough, the gene most commonly mutated among subjects with hereditary hearing impairment (HI), GJB2, encodes the connexin-26 (Cx26) gap-junction channel protein that underlies both intercellular communication among supporting cells and homeostasis of the cochlear fluids, endolymph and perilymph. GJB2 lies at the DFNB1 locus on 13q12. The specific kind of HI associated with this locus is caused by recessively-inherited mutations that in

SUBMITTER: Del Castillo FJ 

PROVIDER: S-EPMC5743749 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature