Article
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.
European journal of pediatrics - 1 Jun 2009
Kahrizi Kimia, Mohseni Marzieh, Nishimura Carla, Bazazzadegan Niloofar, Fischer Stephanie M, Dehghani Atefeh, Sayfati Morteza, Taghdiri Maryam, Jamali Payman, Smith Richard J H, Azizi Fereydoun, Najmabadi Hossein
Abstract excerpt
Mutations in the SLC26A4 gene at the DFNB4 locus are responsible for Pendred syndrome and non-syndromic hereditary hearing loss (DFNB4). This study included 80 nuclear families with two or more siblings segregating presumed autosomal recessive hearing loss. All deaf persons tested negative for mutations in GJB2 at the DFNB1 locus and were, therefore, screened for autozygosity by descent (ABD) using short tandem...
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