Deletion of dpy-19 like 2 (DPY19L2) gene is associated with total but not partial globozoospermia

The dpy-19 like 2 (DPY19L2) gene is the most common genetic cause of globozoospermia characterised by the production of round-headed spermatozoa without an acrosome. The present study was performed on 63 men with globozoospermia and 41 normozoospermic individuals to evaluate the frequency of the DPY19L2 gene and exons; deletion and genetic changes in exons 1, 5, 7-11, 19, 21 and interval introns; and some epidemiological factors (e.g. varicocele, smoking, drug use, alcohol consumption and a family history of infertility). Homozygous deletion of DPY19L2 was identified in 35% of men with globozoospermia. Exon 7 was deleted in 4.8% of men with globozoospermia in which DPY19L2 was not deleted. No genetic variations were observed within the DPY19L2 exons examined, but five intronic polymorphisms were detected: 1054-77T>C in intron 9, 1131+65T>C and 1131+53A>G in intron 10 and 1218+22T>C and 1218+73T>C in intron 11. There were significant differences in the frequency of 1054-77T>C and 1218+22T>C polymorphisms between the globozoospermic and normozoospermic groups. In addition, there were significant differences between the two groups in sperm count, sperm motility, a history of infertility in the family and varicocele. Based on these findings, DPY19L2 deletion is the major cause of total globozoospermia and there is no association between exons 1, 5, 8-11, 19 and 21 polymorphisms of the DPY19L2 gene in the occurrence of this defect.