Whole-exome sequencing of Waardenburg syndrome type 1 caused by PAX3 mutation
This project contains whole-exome sequencing data generated from members of a Chinese Yugur family affected by Waardenburg syndrome type 1 (WS1). The study identified a novel heterozygous frameshift mutation in the PAX3 gene (c.788dup, p.Gln264ThrfsTer5), confirmed to be de novo. Structural modeling and bioinformatic analysis supported the pathogenicity of this variant. The data provide insight into the molecular basis of WS1 and expand the known mutation spectrum of PAX3.