Waardenburg Syndrome: Review of Genotype-Phenotype Relationships in 30 Patients in Hong Kong.

Waardenburg syndrome (WS) is a genetically heterogeneous auditory-pigmentary disorder with multiple genetic loci. We reported 30 Chinese patients from 19 unrelated families with molecularly confirmed WS, either by single-gene testing, gene panel, or research-based whole-genome sequencing. Their clinical phenotypes were reviewed in comparison with other Chinese cohorts in the literature. The overall diagnostic rate in our cohort was 65%. Novel PAX3 and SOX10 variants were found in seven unrelated families. Our findings were consistent with other Chinese phenotypic studies; however, congenital sensorineural hearing loss was less commonly observed in our cohort. This report highlighted the clinical and genetic heterogeneity among WS patients in our ethnicity.