A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome.

Objective: To investigate the mutations in the SLC26A4 gene in a Chinese patient with Pendred syndrome.

Methods: The diagnosis of Pendred syndrome was confirmed by the family history, pure tone audiogram, perchlorate discharge test (PDT), and computed tomography (CT) of the temporal bone. DNA extraction, PCR and DNA sequencing were performed according to standard procedures.