Ontology highlight
ABSTRACT:
SUBMITTER: Khan MR
PROVIDER: S-EPMC3714363 | biostudies-literature | 2013 Aug
REPOSITORIES: biostudies-literature
Biochemical genetics 20130317 7-8
Mutations in SLC26A4 cause either syndromic or nonsyndromic hearing loss. We identified a link between hearing loss and DFNB4 in 3 of the 50 families participating in this study. Sequencing analysis revealed two SLC26A4 mutations, p.V239D and p.S57X, in affected members of the 3 families. These mutations have been previously reported in deaf individuals from the subcontinent, all of whom manifested profound deafness. The patients investigated in our study exhibited moderate to severe hearing los ...[more]