Article
Identification of a founder mutation for Pendred syndrome in families from northwest Iran.
International journal of pediatric otorhinolaryngology - 1 Nov 2014
Mohseni Marzieh, Honarpour Asal, Mozafari Reza, Davarnia Behzad, Najmabadi Hossein, Kahrizi Kimia
Abstract excerpt
OBJECTIVE: Mutations in the SLC26A4 gene cause both Pendred syndrome and autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB4 locus. The SLC26A4 mutations vary among different communities. Previous studies have shown that mutations in the SLC26A4 gene are responsible for the more common syndromic hereditary hearing loss in Iran. This study assesses the possibility of a founder mutation for Pendred...
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