Is there a role for the nuclear export factor 2 gene in male infertility?
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.
Stouffs
Katrien
K
Research Centre for Reproduction and Genetics, Vrije Universiteit Brussel, Brussels, Belgium. katrien.stouffs@uzbrussel.be
Tournaye
Herman
H
Van der Elst
Josiane
J
Liebaers
Inge
I
Lissens
Willy
W
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*
D029543:Nucleocytoplasmic Transport Proteins; C533515:Nxf2 protein, human; D012333:RNA, Messenger; D016601:RNA-Binding Proteins