WNT7A mutations in patients with Müllerian duct abnormalities.

Abstract Study objective WNT7A gene mutations were evaluated as a potential cause for Mullerian 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 Mullerian duct development. WNT7A mutant mice display several Mullerian duct derivative abnormalities. Design Molecular genetic analysis of female patients with Mullerian 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 Mullerian duct derivative abnormalities in humans.