Mutations in WNT4 are not responsible for Müllerian duct abnormalities in Chinese women

Reprod Biomed Online. 2012 Jun;24(6):630-3. doi: 10.1016/j.rbmo.2012.03.008. Epub 2012 Mar 18.

Abstract

The WNT4 gene plays a crucial role in sexual differentiation and female genital tract development. This study screened WNT4 for mutation in 189 Chinese women with Müllerian duct abnormalities (10 Mayer-Rokitansky-Küster-Hauser syndrome, five Müllerian aplasia and 174 incomplete Müllerian fusion) and detected no perturbation that would indicate a major role for WNT4. Only one novel synonymous mutation (c.1091G>A) in exon 5 and one known single-nucleotide polymorphism (rs16826648) in exon 2 were found. The results suggest that WNT4 might not contribute to the aetiology of Müllerian duct abnormalities in Chinese women.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 46, XX Disorders of Sex Development / ethnology*
  • 46, XX Disorders of Sex Development / genetics*
  • Abnormalities, Multiple / ethnology*
  • Abnormalities, Multiple / genetics*
  • Asian People / genetics*
  • Case-Control Studies
  • China
  • Congenital Abnormalities
  • Exons / genetics
  • Female
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease / ethnology
  • Genetic Predisposition to Disease / genetics
  • Genetic Testing
  • Genotype
  • Humans
  • Infertility, Female / ethnology
  • Infertility, Female / genetics
  • Kidney / abnormalities
  • Mullerian Ducts / abnormalities*
  • Mutation / genetics*
  • Polymorphism, Single Nucleotide / genetics*
  • Retrospective Studies
  • Somites / abnormalities
  • Spine / abnormalities
  • Uterus / abnormalities
  • Vagina / abnormalities
  • Wnt4 Protein / genetics*

Substances

  • WNT4 protein, human
  • Wnt4 Protein

Supplementary concepts

  • Mullerian aplasia