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Published on: August 15, 2019
Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts
Ann-Christin Tewes1, Kristin Katharina Rall2, Thomas Römer3
1Institute of Human Genetics, WWU Münster, Münster, Germany.
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.
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