Mutation analysis of seven patients with Waardenburg syndrome / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To perform genetic analysis for 7 patients with Waardenburg syndrome.</p><p><b>METHODS</b>Potential mutation of MITF, PAX3, SOX10 and SNAI2 genes was screened by polymerase chain reaction and direct sequencing. Functions of non-synonymous polymorphisms were predicted with PolyPhen2 software.</p><p><b>RESULTS</b>Seven mutations, including c.649-651delAGA (p.R217del), c.72delG (p.G24fs), c.185T>C (p.M62T), c.118C>T (p.Q40X), c.422T>C (p.L141P), c.640C>T (p.R214X) and c.28G>T(p.G43V), were detected in the patients. Among these, four mutations of the PAX3 gene (c.72delG, c.185T>C, c.118C>T and c.128G>T) and one SOX10 gene mutation (c.422T>C) were not reported previously. Three non-synonymous SNPs (c.185T>C, c.128G>T and c.422T>C) were predicted as harmful.</p><p><b>CONCLUSION</b>Genetic mutations have been detected in all patients with Waardenburg syndrome.</p>