A SPLICE-SITE MUTATION AFFECTING THE PAIRED BOX OF PAX3 IN A 3 GENERATION FAMILY WITH WAARDENBURG SYNDROME TYPE-I (WS1)

Waardenburg syndrome, an autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary disturbances and other developm ental defects, is the most frequent form of congenital deafness in hum ans. Mutations in the PAX3 gene, a transcription factor expressed duri ng embryonic development, is associated with WS types I and III. Here we report the identification of a novel acceptor splice site mutation (86-2 A-->G) in the paired domain of the human PAX3 gene causing WS ty pe I in a three generation family. (C) 1997 Academic Press Limited.