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. 2025 Jul 24:e64193.
doi: 10.1002/ajmg.a.64193. Online ahead of print.

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

Jennifer Y Y Poon  1 , W C Yiu  1 , Stephanie K L Ho  1 , Shirley Sze Wing Cheng  1 , Ho-Ming Luk  1 , Ivan F M Lo  1
Affiliations

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

Jennifer Y Y Poon et al. Am J Med Genet A. .

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.

Keywords: EDNRB; PAX3; SOX10; Chinese; Waardenburg syndrome; phenotype.

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