High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing

Abstract

We revealed a total of seven novel mutations in <i>PAX3</i>, <i>SOX10</i>, and <i>MITF</i>, which underlie the pathogenesis of WS. The clinical and genetic characterization of these families with WS elucidated high heterogeneity in Chinese patients with WS. This study expands the database of <i>PAX3</i>, <i>SOX10</i>, and <i>MITF</i> mutations and improves our understanding of the causes of WS.