title: WNT7A mutations in patients with Müllerian duct abnormalities.
abstract: OBJECTIVE
  WNT7A gene mutations were evaluated as a potential cause for Müllerian duct derivative abnormalities in human females. The WNT gene family encodes glycoproteins that serve as signaling molecules during early development. The WNT7A gene has been previously identified as necessary for normal murine Müllerian duct development. WNT7A mutant mice display several Müllerian duct derivative abnormalities.
  
  
  METHODS
  Molecular genetic analysis of female patients with Müllerian duct derivative abnormalities.
  
  
  METHODS
  Medical center-based academic research institution.
  
  
  METHODS
  40 women with developmental abnormalities of the uterus and vagina and 12 normal controls.
  
  
  METHODS
  Polymerase chain reaction DNA amplification from human genomic DNA and denaturing gradient gel electrophoresis analysis of amplified DNA fragments.
  
  
  METHODS
  Presence or absence of WNT7A gene mutations in analyzed DNA fragments.
  
  
  RESULTS
  No mutations were found in the WNT7A gene in any patient or control tested.
  
  
  CONCLUSIONS
  WNT7A mutations are an unlikely cause of Müllerian duct derivative abnormalities in humans.
authors.affiliation: Department of Obstetrics, Gynecology, and Reproductive Biology, Division of Reproductive Endocrinology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02215, USA.
authors.forename: L S
authors.initials: LS
authors.lastname: Timmreck
authors.forename: H A
authors.initials: HA
authors.lastname: Pan
authors.forename: R H
authors.initials: RH
authors.lastname: Reindollar
authors.forename: M R
authors.initials: MR
authors.lastname: Gray
mesh_terms: D016022:Case-Control Studies; D005260:Female; D006801:Humans; D009095:Mullerian Ducts / Q000002:abnormalities*; D009154:Mutation; D016133:Polymerase Chain Reaction; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051153:Wnt Proteins
chemical_list: D011518:Proto-Oncogene Proteins; C092778:WNT7A protein, human; D051153:Wnt Proteins