Waardenburg Syndrome Pax3 Mutation Detection

Waardenburg syndrome is a dominantly inherited auditory-pigmentary syndromes, manifested by congenital sensoryneural hearing loss, hypopigmented skin and hair, hypoisochromia or heterochromia. It accounts for over 2% congenital profound deafness. Waardenburg syndrome shows high variability in expressivity even within families. Clinically Waardenburg syndrome type I is different from Waardenburg syndrome type II by the presence of dystopia canthorum. Multilocus analysis indicated that all Waardenburg syndrome type I linked to PAX3. Over 50 different PAX3 mutations have been described. But not yet from China. We describe 5 kindreds with Waardenburg syndrome type I from China and analyse the diagnostic creteria, clinical manifestations, genetic patterns. We use PCR-SSCP /direct sequencing to detect PAX3 mutations in them and find PAX3 mutations in exon 2 and exon 5.