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

Objective: To identify genetic causes of malformations of the müllerian ducts.

Design: Retrospective laboratory study.

Setting: University 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.