Ann-Christin Tewes1, Kristin Katharina Rall2, Thomas Römer3, Jürgen Hucke4, Karina Kapczuk5, Sara Brucker2, Peter Wieacker1, Susanne Ledig6. 1. Institute of Human Genetics, WWU Münster, Münster, Germany. 2. Department of Obstetrics and Gynecology, University Hospital Tübingen, Tübingen, Germany. 3. Department of Obstetrics and Gynecology, Evangelisches Krankenhaus Köln-Weyertal, Köln, Germany. 4. Department of Obstetrics and Gynecology, Agaplesion Bethesda Krankenhaus, Wuppertal, Germany. 5. Division of Gynecology, Poznan University of Medical Sciences, Poznan, Poland. 6. Institute of Human Genetics, WWU Münster, Münster, Germany. Electronic address: sledig@uni-muenster.de.
Abstract
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.
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.
Authors: Lacey S Williams; Durkadin Demir Eksi; Yiping Shen; Amy C Lossie; Lynn P Chorich; Megan E Sullivan; John A Phillips; Munire Erman; Hyung-Goo Kim; Ozgul M Alper; Lawrence C Layman Journal: Fertil Steril Date: 2017-06-07 Impact factor: 7.329