PIEBALDISM WITH DEAFNESS - MOLECULAR EVIDENCE FOR AN EXPANDED SYNDROME

In a South African girl of Xhosa stock with severe piebaldism and prof ound congenital sensorineural deafness we identified a novel missense substitution at a highly conserved residue in the intracellular kinase domain of the KIT proto-oncogene, R796G. Though auditory anomalies ha ve been observed in mice with dominant white spotting (W) due to KIT m utations, deafness is not typical in human piebaldism. Thus, the occur rence of sensorineural deafness in this patient extends considerably t he phenotypic range of piebaldism due to KIT gene mutation in humans a nd tightens the clinical similarity between piebaldism and the various forms of Waardenburg syndrome. (C) 1998 Wiley-Liss, Inc.