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.

Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Pendred SyndromeSLC26A41-19, 21 [21] (*13)ARCaucasian1 in 8857%0.00492610837438424
Pendred SyndromeSLC26A41-19, 21 [21] (*13)ARAfrican1 in 76>95%0.000666222518321119
Pendred SyndromeSLC26A41-19, 21 [21] (*13)ARAsian1 in 7475%0.00341296928327645
Pendred SyndromeSLC26A41-19, 21 [21] (*13)ARWorldwide1 in 8071%0.00732600732600733