Jennifer Y Y Poon, W C Yiu, Stephanie K L Ho, Shirley Sze Wing Cheng, Ho-Ming Luk, Ivan F M Lo
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引用次数: 0
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.
期刊介绍：
The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts:
Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders.
Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .
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