Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.

doi:10.1007/s00439-021-02301-3

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Article

Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.

Human genetics - 1 Apr 2022

Wang Guojian, Li Xiaohong, Gao Xue, Su Yu, Han Mingyu, Gao Bo, Guo Chang, Kang Dongyang, Huang Shasha, Yuan Yongyi, Dai Pu

Abstract excerpt

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...

Topics

China
Genotype
Humans
Microphthalmia-Associated Transcription Factor
Mosaicism
Mutation
PAX3 Transcription Factor
Pedigree
Phenotype
SOXE Transcription Factors
Waardenburg Syndrome

Source

Open in PubMed

Identifiers

PMID: 34142234
DOI: 10.1007/s00439-021-02301-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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