Molecular analysis of the beta-catenin gene in patients with the Mayer-Rokitansky-Küster-Hauser syndrome.

PURPOSE: To study the beta-catenin gene in a group of Mayer-Rokitansky-Küster-Hauser patients. METHODS: Twelve patients with the Mayer-Rokitansky-Küster-Hauser syndrome were included in this study. DNA was extracted from peripheral blood and the region codifying beta-catenin GSK-3beta phosphorylation sites on exon 3 was amplified. PCR products were purified and directly sequenced. RESULTS: No mutations were found in the GSK-3beta phosphorylation sites on exon 3 of beta-catenin gene in this group of patients with the MRKH syndrome. CONCLUSIONS: beta-catenin gene mutations are an unlikely cause of the MRKH syndrome.