CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.

ABSTRACT: Defects of CIB2, calcium- and integrin-binding protein 2, have been reported to cause isolated deafness, DFNB48 and Usher syndrome type-IJ, characterized by congenital profound deafness, balance defects and blindness. We report here two new nonsense mutations (pGln12* and pTyr110*) in CIB2 patients displaying nonsyndromic profound hearing loss, with no evidence of vestibular or retinal dysfunction. Also, the generated CIB2^-/- mice display an early onset profound deafness and have normal balance and retinal functions. In these mice, the mechanoelectrical transduction currents are totally abolished in the auditory hair cells, whilst they remain unchanged in the vestibular hair cells. The hair bundle morphological abnormalities of CIB2^-/- mice, unlik

SUBMITTER: Michel V 

PROVIDER: S-EPMC5709726 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature