- Waardenburg's syndrome
Autosomal dominant disorder with deafness and pigmentary disturbances probably as a result of defects in function of neural crest. Various forms of the syndrome are recognized. Waardenburg Syndrome 1 (WS1) and WS3 (also known as Klein-Waardenburg syndrome) are caused by mutation in Pax3 - an homologous defect to the mouse mutant Splotch that also has defective Pax -3. Waardenburg-Shah syndrome (WS4), in which Waardenburg&’s syndrome is associated with Hirschsprung&’s disease, is due to mutation in Sox10 and there is an homologous mutation in Dom mice (dominant megacolon), piebald-lethal and lethal spotting. WS2 is heterogeneous with mutation in the microphthalmia ( MITF ) gene.
Dictionary of molecular biology. 2004.