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Mutations of the Pendred Syndrome Gene (PDS) in Patients with Large Vestibular Aqueduct

A recent report demonstrated the presence of a mutation in the Pendred syndrome gene (PDS) of patients with large vestibular aqueducts but without goitre. We studied PDS mutations in members of four Japanese families, among which five affected members showed bilateral enlarged vestibular aqueducts. All affected members exhibited moderate to severe bilateral fluctuating sensorineural hearing loss and the absence of goitre. Three members also suffered from recurrent episodic vertiginous spells. Analysis of PDS