Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.

ABSTRACT: Hereditary hearing loss is genetically heterogeneous, with a large number of genes and mutations contributing to this sensory, often monogenic, disease. This number, as well as large size, precludes comprehensive genetic diagnosis of all known deafness genes. A combination of targeted genomic capture and massively parallel sequencing (MPS), also referred to as next-generation sequencing, was applied to determine the deafness-causing genes in hearing-impaired individuals from Israeli Jewish and Palestinian Arab families. Among the mutations detected, we identified nine novel mutations in the genes encoding myosin VI, myosin VIIA and myosin XVA, doubling the number of myosin mutations in the Middle East. Myosin VI mutations were identified in this population for the first time. Modeling of t

SUBMITTER: Brownstein Z 

PROVIDER: S-EPMC4023209 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature