The heterozygous mutation in a Chinese family with Waardenburg syndrome type I.

The genovariation of endothelin receptor type B () was identified in a Chinese family with Waardenburg syndrome type I (WS1) in the present study. WS1 was diagnosed in a 19-year-old young man, his older sister and aunt according to WS consortium criteria. After extracting genomic DNA from the peripheral blood samples, the coding exons and intronic regions of were sequenced. A missense heterozygous mutation was found in the coding region of exon 2 in the gene on chormosome 13q22.3 of the proband. The same mutation was detected in the proband's afflicted paternal aunt and first older sister. Subsequent polyphen analysis and three-dimensional modeling confirmed that the c.469A>G heterozygous mutation in was possibly pathogenic. This is the first report of mutation as a potential disease-causing mutation in Chinese patients with WS1.