Institute of Human Genetics, WWU Münster, Münster, Germany.
Department of Obstetrics and Gynecology, University Hospital Tübingen, Tübingen, Germany.
Fertil Steril. 2015 May;103(5):1313-8. doi: 10.1016/j.fertnstert.2015.02.014. Epub 2015 Mar 23.
To identify genetic causes of malformations of the müllerian ducts.
Retrospective laboratory study.
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.
鉴定缪勒管畸形的遗传病因。
回顾性实验室研究。
大学医院。
共 167 例缪勒管发育障碍患者：116 例 Mayer-Rokitansky-Küster-Hauser 综合征患者和 51 例缪勒管融合障碍患者。对照组由 94 名至少有一个孩子的生育妇女组成。
对一组 167 例临床明确的缪勒管发育障碍患者进行 RBM8A 和 TBX6 的序列分析。
鉴定 RBM8A 和 TBX6 中的罕见变异。
共在 13 例缪勒管发育障碍患者中发现了 4 种 RBM8A 变异，在 167 例患者中的 5 例中发现了 2 种杂合 TBX6 变异。
RBM8A 和 TBX6 的突变与缪勒管发育障碍有关。
