Ontology highlight
ABSTRACT:
SUBMITTER: Riazuddin S
PROVIDER: S-EPMC3501259 | biostudies-literature | 2012 Nov
REPOSITORIES: biostudies-literature
Riazuddin Saima S Belyantseva Inna A IA Giese Arnaud P J AP Lee Kwanghyuk K Indzhykulian Artur A AA Nandamuri Sri Pratima SP Yousaf Rizwan R Sinha Ghanshyam P GP Lee Sue S Terrell David D Hegde Rashmi S RS Ali Rana A RA Anwar Saima S Andrade-Elizondo Paula B PB Sirmaci Asli A Parise Leslie V LV Basit Sulman S Wali Abdul A Ayub Muhammad M Ansar Muhammad M Ahmad Wasim W Khan Shaheen N SN Akram Javed J Tekin Mustafa M Riazuddin Sheikh S Cook Tiffany T Buschbeck Elke K EK Frolenkov Gregory I GI Leal Suzanne M SM Friedman Thomas B TB Ahmed Zubair M ZM
Nature genetics 20120930 11
Sensorineural hearing loss is genetically heterogeneous. Here, we report that mutations in CIB2, which encodes a calcium- and integrin-binding protein, are associated with nonsyndromic deafness (DFNB48) and Usher syndrome type 1J (USH1J). One mutation in CIB2 is a prevalent cause of deafness DFNB48 in Pakistan; other CIB2 mutations contribute to deafness elsewhere in the world. In mice, CIB2 is localized to the mechanosensory stereocilia of inner ear hair cells and to retinal photoreceptor and p ...[more]