Mutations in the SLC26A4 (PDS) gene cause Pendred syndrome with sensorineural hearing loss or an autosomal recessive non-syndromic deafness (DFNB4). Pendred syndrome is characterized by severe-to-profound bilateral sensorineural hearing impairment, vestibular dysfunction, temporal bone abnormalities, and development of euthyroid goiter in late childhood to early adulthood. This laboratory performs Sanger sequencing of the SLC26A4 gene.
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