Analysis of WNT9B mutations in Chinese women with Mayer-Rokitansky-Küster-Hauser syndrome

Reprod Biomed Online. 2014 Jan;28(1):80-5. doi: 10.1016/j.rbmo.2013.09.022. Epub 2013 Oct 5.

Abstract

Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome is a rare congenital female genital anomaly, which is caused by aplasia of the caudalportion of the Müllerian duct. The WNT9B gene encodes a secretory glycoprotein essential for the caudal extension of the Müllerian duct during embryonic development in mice. Coding regions and exon/intron boundaries of the WNT9B gene were amplified and sequenced in 42 Chinese women with MRKH syndrome and 42 controls. Two novel heterozygous mutationswere identified,which were absent in controls. Onewas amissensemutation in exon 1, and the other was located in the 30-untranslated region. Both variants were detected in one out of 42 patients. The two novel mutations may be pathogenic variants in MRKH patients and warrant further functional study.

Keywords: Mayer–Rokitansky–Küster–Hauser syndrome; Müllerian duct; Single-nucleotide polymorphism; WNT9B; Wolffian duct; mutation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 46, XX Disorders of Sex Development / genetics*
  • Adult
  • Amino Acid Sequence
  • Asian People / genetics*
  • Base Sequence
  • Case-Control Studies
  • Congenital Abnormalities / genetics*
  • DNA Primers / genetics
  • Female
  • Humans
  • Molecular Sequence Data
  • Mullerian Ducts / abnormalities*
  • Mutation, Missense / genetics*
  • Nucleic Acid Amplification Techniques
  • Sequence Alignment
  • Sequence Analysis, DNA
  • Wnt Proteins / genetics*

Substances

  • DNA Primers
  • WNT9B protein, human
  • Wnt Proteins

Supplementary concepts

  • Mullerian aplasia