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

Objective: To identify genetic causes of malformations of the mullerian ducts. Design: Retrospective laboratory study. Setting: University hospital. Patient(s): A total of 167 patients with disorders of the mullerian ducts: 116 patients with Mayer-Rokitansky-Kuster-Hauser syndrome and 51 patients with fusion disorders of the mullerian 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 mullerian 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 mullerian ducts and two heterozygous TBX6 variants in 5 of 167 patients. Conclusion(s): Mutations of RBM8A and TBX6 are associated with disorders of the mullerian ducts. (C) 2015 by American Society for Reproductive Medicine.