2 DIFFERENT PAX3 GENE-MUTATIONS CAUSING WAARDENBURG SYNDROME TYPE-I

Waardenburg syndrome (WS) is a form of autosomal dominant inherited de afness combined with specific congenital anomalies. WS types I and III are correlated with mutations in the PAX3 gene on chromosome 2q37. In this report we describe two mutations in the human PAX3 gene causing WS type I in two families. One mutation is an insertion in the paired box domain resulting in a protein termination within the paired box. T he second mutation is a base pair substitution producing an arginine t o cysteine amino acid change in the homeobox region. (C) 1996 Academic Press Limited