Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss

ABSTRACT: Background The genetic diversity of loci and mutations underlying hereditary hearing loss is an active area of investigation. To identify loci associated with predominantly non-syndromic sensorineural hearing loss, we performed exome sequencing of families and of single probands, as well as copy number variation (CNV) mapping in a case-control cohort. Results Analysis of three distinct families revealed several candidate loci in two families and a single strong candidate gene, MYH7B, for hearing loss in one family. MYH7B encodes a Type II myosin, consistent with a role for cytoskeletal proteins in hearing. High-resolution genome-wide CNV analysis of 150 cases and 157 controls revealed deletions in genes known to be involved in hearing (e.g. GJB6, OTOA, and STRC, encoding connexin 30, otoa

ORGANISM(S): Homo sapiens

SUBMITTER: Rajini Haraksingh 

PROVIDER: E-GEOD-64088 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress