Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts

ObjectiveTo identify genetic causes of malformations of the müllerian ducts.DesignRetrospective laboratory study.SettingUniversity hospital.Patient(s)A total of 167 patients with disorders of the müllerian ducts: 116 patients with Mayer-Rokitansky-Küster-Hauser syndrome and 51 patients with fusion disorders of the müllerian ducts. The control group was composed of 94 fertile women with at least one child.Intervention(s)Sequential analysis of RBM8A and TBX6 in a group of 167 clinically well-defined patients with disorders of the müllerian ducts.Main Outcome Measure(s)Identification of rare variants in RBM8A and TBX6.Result(s)In total, we detected four RBM8A variants in 13 patients with disorders of the müllerian ducts and two heterozygous TBX6 variants in 5 of 167 patients.Conclusion(s)Mutations of RBM8A and TBX6 are associated with disorders of the müllerian ducts.