Molecular analysis of the β-catenin gene in patients with the Mayer-Rokitansky-Kuster-Hauser syndrome

Purpose To study the beta-catenin gene in a group of Mayer-Rokitansky- Kuster-Hauser patients. Methods Twelve patients with the Mayer-Rokitansky-Kuster- Hauser syndrome were included in this study. DNA was extracted from peripheral blood and the region codifying beta-catenin GSK-3 beta phosphorylation sites on exon 3 was amplified. PCR products were purified and directly sequenced. Results No mutations were found in the GSK-3 beta 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.