RESUMO
STUDY 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. DESIGN: Molecular genetic analysis of female patients with Müllerian duct derivative abnormalities. SETTING: Medical center-based academic research institution. PARTICIPANTS: 40 women with developmental abnormalities of the uterus and vagina and 12 normal controls. INTERVENTIONS: Polymerase chain reaction DNA amplification from human genomic DNA and denaturing gradient gel electrophoresis analysis of amplified DNA fragments. MAIN OUTCOME MEASURES: 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.