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

作者：Tewes Ann Christin; Rall Kristin Katharina; Roemer Thomas; Hucke Juergen; Kapczuk Karina; Brucker Sara; Wieacker Peter; Ledig Susanne^*

来源：Fertility and Sterility, 2015, 103(5): 1313-1318.

DOI：10.1016/j.fertnstert.2015.02.014

• MRKHS
• disorders of the mullerian ducts
• RBM8A
• TBX6

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.

• 出版日期2015-5