title: Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts.
abstract: OBJECTIVE
  To identify genetic causes of malformations of the müllerian ducts.
  
  
  METHODS
  Retrospective laboratory study.
  
  
  METHODS
  University hospital.
  
  
  METHODS
  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.
  
  
  METHODS
  Sequential analysis of RBM8A and TBX6 in a group of 167 clinically well-defined patients with disorders of the müllerian ducts.
  
  
  METHODS
  Identification of rare variants in RBM8A and TBX6.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  Mutations of RBM8A and TBX6 are associated with disorders of the müllerian ducts.
authors: Institute of Human Genetics, WWU Münster, Münster, Germany.
authors: Ann-Christin
authors: AC
authors: Tewes
authors: Department of Obstetrics and Gynecology, University Hospital Tübingen, Tübingen, Germany.
authors: Kristin Katharina
authors: KK
authors: Rall
authors: Department of Obstetrics and Gynecology, Evangelisches Krankenhaus Köln-Weyertal, Köln, Germany.
authors: Thomas
authors: T
authors: Römer
authors: Department of Obstetrics and Gynecology, Agaplesion Bethesda Krankenhaus, Wuppertal, Germany.
authors: Jürgen
authors: J
authors: Hucke
authors: Division of Gynecology, Poznan University of Medical Sciences, Poznan, Poland.
authors: Karina
authors: K
authors: Kapczuk
authors: Department of Obstetrics and Gynecology, University Hospital Tübingen, Tübingen, Germany.
authors: Sara
authors: S
authors: Brucker
authors: Institute of Human Genetics, WWU Münster, Münster, Germany.
authors: Peter
authors: P
authors: Wieacker
authors: Institute of Human Genetics, WWU Münster, Münster, Germany. Electronic address: sledig@uni-muenster.de.
authors: Susanne
authors: S
authors: Ledig
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000175:diagnosis / Q000235:genetics*; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006785:Hospitals, University; D006801:Humans; D009095:Mullerian Ducts / Q000002:abnormalities*; D009154:Mutation; D010641:Phenotype; D016601:RNA-Binding Proteins / Q000235:genetics*; D012189:Retrospective Studies; D020825:T-Box Domain Proteins / Q000235:genetics*
chemical_list: C406243:RBM8A protein, human; D016601:RNA-Binding Proteins; D020825:T-Box Domain Proteins; C491182:TBX6 protein, human
keywords: MRKHS; RBM8A; TBX6; disorders of the müllerian ducts