Pendred syndrome and DFNB4‐mutation screening of <i>SLC26A4</i> by denaturing high‐performance liquid chromatography and the identification of eleven novel mutations

Abstract excerpt

Mutations in SLC26A4 cause Pendred syndrome, an autosomal-recessive disorder characterized by sensorineural deafness and goiter, and DFNB4, a type of autosomal recessive nonsyndromic deafness in which, by definition, affected persons do not have thyromegaly. The clinical diagnosis of these two conditions is difficult, making mutation screening of SLC26A4 a valuable test. Although screening can be accomplished in...

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