title: Is there a role for the nuclear export factor 2 gene in male infertility?
abstract: OBJECTIVE
  To determine the presence of mutations in the NXF2 gene of patients with nonobstructive azoospermia.
  
  
  METHODS
  Molecular analysis of male infertility.
  
  
  METHODS
  University genetic laboratory and reproductive clinic.
  
  
  METHODS
  Sixty-five patients with Sertoli cell-only syndrome (SCOS) and 20 control men.
  
  
  METHODS
  Polymerase chain reaction, sequencing analysis, RNA extraction, and reverse transcription polymerase chain reaction.
  
  
  METHODS
  Expression of NXF2 messenger RNA and analysis of the NXF2 gene for the presence of mutations and polymorphisms.
  
  
  RESULTS
  Messenger RNA derived from the NXF2 gene could be amplified from normal human testicular tissue. Sequencing analysis showed the presence of two polymorphisms in the NXF2 gene. A first alteration, c.1779C>T, was observed in one man who had complete SCOS. Although it is located near an intron-exon boundary, this change probably does not affect splicing. The second alteration, c.1857A>G, was detected in 22 patients with complete SCOS and in 13 patients with incomplete SCOS. Also, 15 of 20 men with normal spermatogenesis had this alteration. Neither of these alterations causes a change at the amino acid level.
  
  
  CONCLUSIONS
  No mutations were detected in the NXF2 gene, from which we concluded that there is no need to screen for mutations in the NXF2 gene in a routine IVF program.
authors.affiliation: Research Centre for Reproduction and Genetics, Vrije Universiteit Brussel, Brussels, Belgium. katrien.stouffs@uzbrussel.be
authors.forename: Katrien
authors.initials: K
authors.lastname: Stouffs
authors.forename: Herman
authors.initials: H
authors.lastname: Tournaye
authors.forename: Josiane
authors.initials: J
authors.lastname: Van der Elst
authors.forename: Inge
authors.initials: I
authors.lastname: Liebaers
authors.forename: Willy
authors.initials: W
authors.lastname: Lissens
mesh_terms: D053713:Azoospermia / Q000235:genetics* / Q000503:physiopathology; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D008297:Male; D029543:Nucleocytoplasmic Transport Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D012333:RNA, Messenger / Q000032:analysis; D016601:RNA-Binding Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D054331:Sertoli Cell-Only Syndrome / Q000235:genetics* / Q000503:physiopathology; D013091:Spermatogenesis / Q000235:genetics; D013737:Testis / Q000737:chemistry*
chemical_list: D029543:Nucleocytoplasmic Transport Proteins; C533515:Nxf2 protein, human; D012333:RNA, Messenger; D016601:RNA-Binding Proteins