Ontology highlight
ABSTRACT:
SUBMITTER: Lee K
PROVIDER: S-EPMC3374056 | biostudies-other | 2012 Jul
REPOSITORIES: biostudies-other
Lee K K Khan S S Islam A A Ansar M M Andrade P B PB Kim S S Santos-Cortez R L P RL Ahmad W W Leal S M SM
Clinical genetics 20110525 1
Mutations in the TMPRSS3 gene are known to cause autosomal recessive non-syndromic hearing impairment (ARNSHI). After undergoing a genome scan, 10 consanguineous Pakistani families with ARNSHI were found to have significant or suggestive evidence of linkage to the TMPRSS3 region. In order to elucidate if the TMPRSS3 gene is responsible for ARNSHI in these families, the gene was sequenced using DNA samples from these families. Six TMPRSS3 variants were found to cosegregate in 10 families. None of ...[more]