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

ABSTRACT 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.