Objective: To determine the presence of mutations in the NXF2 gene of patients with nonobstructive azoospermia.
Design: Molecular analysis of male infertility.
Setting: University genetic laboratory and reproductive clinic.
Patient(s): Sixty-five patients with Sertoli cell-only syndrome (SCOS) and 20 control men.
Intervention(s): Polymerase chain reaction, sequencing analysis, RNA extraction, and reverse transcription polymerase chain reaction.
Main outcome measure(s): Expression of NXF2 messenger RNA and analysis of the NXF2 gene for the presence of mutations and polymorphisms.
Result(s): 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.
Conclusion(s): 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.