A Novel PAX3 Mutation in a Chinese Family with Waardenburg Syndrome Type 1

Genet Test Mol Biomarkers. 2020 May;24(5):249-255. doi: 10.1089/gtmb.2019.0231. Epub 2020 Apr 3.


Aims: To determine the clinical characteristics and genetic cause of Waardenburg syndrome type 1 (WS1) in a Chinese family. Materials and Methods: Evaluations, including history, clinical features, and audiological tests, were performed on the proband and her parents. Genetic analyses were performed targeting 144 known deafness genes using a next-generation sequencing panel. Bioinformatic analyses were used to analyze the candidate mutation. Results: The proband and her parents suffered from congenital bilateral profound hearing loss. Her mother exhibited bilateral blue irides. WS1 was diagnosed in the proband and her mother according to the Waardenburg syndrome consortium criteria: the calculated W index of the proband was 2.39 and that of her mother was 2.31. A novel mutation c.1076_1077del (p.Thr359fs) in exon 7 of the PAX3 gene (paired box 3) was identified in the proband and her mother that was absent in the father and controls. Conclusion: Mutations in exon 7 of the PAX3 gene are rare. We identified a novel frameshift mutation in exon 7 of the PAX3 gene that we determined was responsible for WS1 in this family.

Keywords: PAX3; Waardenburg syndrome; autosomal dominant inheritance.

Publication types

  • Case Reports

MeSH terms

  • Asian People / genetics
  • China
  • Exons / genetics
  • Family
  • Female
  • Genetic Testing / methods
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Male
  • Mutation
  • PAX3 Transcription Factor / genetics*
  • PAX3 Transcription Factor / metabolism
  • Pedigree
  • Waardenburg Syndrome / genetics*
  • Waardenburg Syndrome / metabolism


  • PAX3 Transcription Factor
  • PAX3 protein, human