Article
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.
EMBO molecular medicine - 1 Dec 2017
Michel Vincent, Booth Kevin T, Patni Pranav, Cortese Matteo, Azaiez Hela, Bahloul Amel, Kahrizi Kimia, Labbé Ménélik, Emptoz Alice, Lelli Andrea, Dégardin Julie, Dupont Typhaine, Aghaie Asadollah, Oficjalska-Pham Danuta, Picaud Serge, Najmabadi Hossein, Smith Richard J, Bowl Michael R, Brown Steven Dm, Avan Paul, Petit Christine, El-Amraoui Aziz
Abstract excerpt
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...
Topics
- Animals
- Auditory Threshold
- Behavior, Animal
- Calcium-Binding Proteins
- Cell Survival
- Deafness
- Disease Models, Animal
- Eye
- Female