Clinical Utility

Pathogenic variants in the SLC26A4 gene can cause Pendred syndrome (PDS) and DFNB4. Pendred syndrome is an autosomal recessive syndromic disorder characterized by bilateral sensorineural hearing impairment (typically congenital), vestibular dysfunction, temporal bone abnormalities such as enlargement of the vestibular aqueduct (EVA), and euthyroid goiter. DFNB4 is an autosomal recessive form of nonsyndromic deafness characterized by vestibular dysfunction and EVA without thyroid defects. SLC26A4 pathogenic variants may account for 7-13% of all congenital hearing impairment.  SLC26A4 pathogenic variants account for approximately half of PDS/DFNB4 cases and are the second most common cause of genetic hearing impairment.