The genovariation of endothelin receptor type B (<i>EDNRB</i>) was identified in a Chinese family with Waardenburg syndrome type I (WS1) in the present study.
Genetic analyses revealed that the proband had no mutation in PAX3 which has been known as the cause of WS1, but had a homozygous missense mutation (p.R319W) in endothelin receptor type B (EDNRB) gene.