ArticleHuman genetics2022
Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.
Article in Human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Auditory and speech outcomes of cochlear implantation in patients with Waardenburg syndrome: a meta-analysis.Frontiers in neurology · 2024Pooled it
- Epigenetic, Genetic, and Functional Germline Alterations ofCurrent issues in molecular biology · 2026Review
- A novel frameshift variant ofFrontiers in genetics · 2025Article
- Comprehensive Approach for the Genetic Diagnosis of Patients with Waardenburg Syndrome.Journal of personalized medicine · 2024Article
- Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration.Orphanet journal of rare diseases · 2024Article
- Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants.Audiology research · 2023Article
- A novel variant of the SOX10 gene associated with Waardenburg syndrome type IV.BMC medical genomics · 2023Article
- Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome.Human genetics · 2023Article
- Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.Molecular genetics & genomic medicine · 2022Article
- A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.BMC medical genomics · 2022Article
- Hearing characteristics and cochlear implant effects in children with Waardenburg syndrome: a case series.Translational pediatrics · 2022Article
- Analysis of the genotype-phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients.BMC medical genomics · 2022Article
- SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.Journal of medical genetics · 2022Review
- Genetics of Inner Ear Malformations: A Review.Audiology research · 2021Review
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
Abstract
Waardenburg syndrome (WS) is a phenotypically and genetically heterogeneous disorder characterised by hearing loss and pigmentary abnormalities. We clarified the clinical and genetic features in 90 Chinese WS probands. Disease-causing variants were detected in 55 probands, for a molecular diagnosis rate of 61%, including cases related to PAX3 (14.4%), MITF (24.4%), and SOX10 (22.2%). Altogether, 48 variants were identified, including 44 single-nucleotide variants and 4 copy number variants. By parental genotyping, de novo variants were observed in 60% of probands and 15.4% of the de novo variation was associated with mosaicism. Statistical analyses revealed that brown freckles on the skin were more frequently seen in probands with MITF variants; patchy depigmented skin, asymmetric hearing loss, and white forelocks occurred more often in cases with PAX3 variants; and congenital inner ear malformations were more common and cochlear hypoplasia III was exclusively observed in those with SOX10 variants. In addition, we found that ranges of W-index values overlapped between WS probands with different genetic variants, and the use of the W-index as a tool for assessing dystopia canthorum may be problematic in Chinese. Herein, we report the spectrum of a cohort of WS probands and elucidate the relationship between genotype and phenotype.
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