Article
Two missense mutations in SLC26A4 gene: a molecular and functional study.
Clinical genetics - 1 Jul 2010
Rebeh I Ben, Yoshimi N, Hadj-Kacem H, Yanohco S, Hammami B, Mnif M, Araki M, Ghorbel A, Ayadi H, Masmoudi S, Miyazaki H
Abstract excerpt
Mutations in the SLC26A4 gene encoding pendrin, an anion transporter, are responsible for non-syndromic hearing loss (HL) (DFNB4) and Pendred syndrome (PS). PS is a genetic disorder that causes early HL and affects the thyroid gland. Here, we report eight Tunisian families affected with profound HL. Clinical investigations revealed goiter in few patients. Genotyping using microsatellite makers showed linkage to...
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