title: DMRT1 mutations are rarely associated with male infertility.
abstract: OBJECTIVE
  To study a potential association between male infertility and DMRT1 mutations.
  
  
  METHODS
  Retrospective sequencing study.
  
  
  METHODS
  University hospital.
  
  
  METHODS
  171 patients with cryptozoospermia (sperm concentration<0.1 million/mL, n=40) or nonobstructive azoospermia (n=131), and 215 normozoospermic controls.
  
  
  METHODS
  Sequence analysis of DMRT1.
  
  
  METHODS
  Identification of rare variants in DMRT1 that are associated with male infertility.
  
  
  RESULTS
  In total, we detected four putative pathogenic mutations in six patients (3.5%) and less frequently in two controls (0.9%).
  
  
  CONCLUSIONS
  Point mutations of DMRT1 may be rarely associated with male infertility.
authors.affiliation: Institute of Human Genetics, University of Münster, Münster, Germany.
authors.forename: Ann-Christin
authors.initials: AC
authors.lastname: Tewes
authors.affiliation: Institute of Human Genetics, University of Münster, Münster, Germany.
authors.forename: Susanne
authors.initials: S
authors.lastname: Ledig
authors.affiliation: Institute of Human Genetics, University of Münster, Münster, Germany.
authors.forename: Frank
authors.initials: F
authors.lastname: Tüttelmann
authors.affiliation: Department of Clinical Andrology, Centre of Reproductive Medicine and Andrology, University of Münster, Münster, Germany.
authors.forename: Sabine
authors.initials: S
authors.lastname: Kliesch
authors.affiliation: Institute of Human Genetics, University of Münster, Münster, Germany. Electronic address: wieacker@uni-muenster.de.
authors.forename: Peter
authors.initials: P
authors.lastname: Wieacker
mesh_terms: D053713:Azoospermia / Q000235:genetics*; D016022:Case-Control Studies; D005787:Gene Frequency; D006801:Humans; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D012189:Retrospective Studies; D054331:Sertoli Cell-Only Syndrome / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C110547:DMRT1 protein; D014157:Transcription Factors
keywords: DMRT1; male infertility; point mutation