Phenocopies for Deafness and Goiter Development in a Large Inbred Brazilian Kindred with Pendred’s Syndrome Associated with a Novel Mutation in thePDSGene¹

Pendred’s syndrome is an autosomal recessive disease characterized by goiter, impaired iodide organification, and congenital sensorineural deafness. The gene mutated in Pendred’s syndrome, PDS (Pendred’s syndrome gene), was cloned very recently and encodes the putative sulfate transporter pendrin. Pendred’s syndrome may account for up to 10% of the cases with hereditary hearing loss, and pendrin mutations have also been found in a kindred with...