Pendred Syndrome (SLC26A4)
Pendred syndrome is an autosomal recessive, pan-ethnic disorder caused by pathogenic variants in the gene SLC26A4. Clinical features include non-progressive, severe-to-profound, bilateral hearing loss that is present from birth and malformations of the cochlea. Some patients may have an enlarged vestibular aqueduct. Patients also develop a goiter in late childhood or adolescence that may result in abnormal thyroid function. There may be an increased risk of thyroid cancer. Some patients may only develop hearing loss and not display any thyroid abnormalities or goiter. Life expectancy is not reduced, and no clear genotype-phenotype correlation is known.
For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.