[Mutation analysis of seven patients with Waardenburg syndrome]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Jun;33(3):312-5. doi: 10.3760/cma.j.issn.1003-9406.2016.03.007.
[Article in Chinese]

Abstract

Objective: To perform genetic analysis for 7 patients with Waardenburg syndrome.

Methods: Potential mutation of MITF, PAX3, SOX10 and SNAI2 genes was screened by polymerase chain reaction and direct sequencing. Functions of non-synonymous polymorphisms were predicted with PolyPhen2 software.

Results: Seven mutations, including c.649-651delAGA (p.R217del), c.72delG (p.G24fs), c.185T>C (p.M62T), c.118C>T (p.Q40X), c.422T>C (p.L141P), c.640C>T (p.R214X) and c.28G>T(p.G43V), were detected in the patients. Among these, four mutations of the PAX3 gene (c.72delG, c.185T>C, c.118C>T and c.128G>T) and one SOX10 gene mutation (c.422T>C) were not reported previously. Three non-synonymous SNPs (c.185T>C, c.128G>T and c.422T>C) were predicted as harmful.

Conclusion: Genetic mutations have been detected in all patients with Waardenburg syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Female
  • Humans
  • Male
  • Microphthalmia-Associated Transcription Factor / genetics
  • Mutation*
  • PAX3 Transcription Factor
  • Paired Box Transcription Factors / genetics
  • Polymorphism, Single Nucleotide
  • SOXE Transcription Factors / genetics
  • Waardenburg Syndrome / genetics*

Substances

  • MITF protein, human
  • Microphthalmia-Associated Transcription Factor
  • PAX3 Transcription Factor
  • PAX3 protein, human
  • Paired Box Transcription Factors
  • SOX10 protein, human
  • SOXE Transcription Factors