Spritz R A, Beighton P
Department of Medical Genetics, School of Medicine, University of Wisconsin, Madison 53706, USA.
Am J Med Genet. 1998 Jan 6;75(1):101-3. doi: 10.1002/(sici)1096-8628(19980106)75:1<101::aid-ajmg20>3.0.co;2-p.
In a South African girl of Xhosa stock with severe piebaldism and profound 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 have been observed in mice with dominant white spotting (W) due to KIT mutations, deafness is not typical in human piebaldism. Thus, the occurrence of sensorineural deafness in this patient extends considerably the phenotypic range of piebaldism due to KIT gene mutation in humans and tightens the clinical similarity between piebaldism and the various forms of Waardenburg syndrome.
