Ontology highlight
ABSTRACT:
SUBMITTER: Azaiez H
PROVIDER: S-EPMC4376867 | biostudies-literature | 2015 Mar
REPOSITORIES: biostudies-literature
Azaiez Hela H Decker Amanda R AR Booth Kevin T KT Simpson Allen C AC Shearer A Eliot AE Huygen Patrick L M PL Bu Fengxiao F Hildebrand Michael S MS Ranum Paul T PT Shibata Seiji B SB Turner Ann A Zhang Yuzhou Y Kimberling William J WJ Cornell Robert A RA Smith Richard J H RJ
PLoS genetics 20150327 3
Hereditary hearing loss is a clinically and genetically heterogeneous disorder. More than 80 genes have been implicated to date, and with the advent of targeted genomic enrichment and massively parallel sequencing (TGE+MPS) the rate of novel deafness-gene identification has accelerated. Here we report a family segregating post-lingual progressive autosomal dominant non-syndromic hearing loss (ADNSHL). After first excluding plausible variants in known deafness-causing genes using TGE+MPS, we comp ...[more]