Balkan Journal of Medical Genetics

A HOMOZYGOUS DELETION OF THE DPY19L2 GENE IS A CAUSE OF GLOBOZOOSPERMIA IN MEN FROM THE REPUBLIC OF MACEDONIA
Noveski P1, Madjunkova S1, Maleva I1, Sotiroska V2, Petanovski Z2, Plaseska-Karanfilska D1,*
*Corresponding Author: Professor Dijana Plaseska-Karanfilska, Macedonian Academy of Sciences and Arts, Research Center for Genetic Engineering and Biotechnology, Av. Krste Misirkov 2, POB 428, 1000 Skopje, Republic of Macedonia; Tel.: +389-2-3235-410; Fax: +389-2-3115-434; E-mail: dijana@manu.edu.mk
page: 73

DISCUSSION

Here we present the genetic analysis of two patients with 100.0% round-headed spermatozoa. A homozygous deletion of the DPY19L2 gene was detected in both patients, thus suggesting that this deletion represents a major cause of globozoospermia among Macedonian men. The mechanism underlying the recurrent DPY19L2 gene deletion is a nonallelic homologous recombination (NAHR) between the two highly homologous 28 kb LCRs present on each side of DPY19L2 [10]. Thus far, nine breakpoint zones have been identified in patients from different regions [12,13]. The fact that the same breakpoints are shared by patients from different regions and ethnic origin, and that patients from the same country have different breakpoints, excludes the founder effect and strongly suggests that the deletion results from recurrent events linked to the specific architectural feature of this region. Intracytoplasmic sperm injection is the only treatment for patients with globozoospermia. However, fertilization rates after ICSI in these patients are severely reduced [7,15]. Fertilization failures in the patients with globozoospermia have been attributed to a deficiency in oocyte activation capacity [16]. A recent study of a large cohort of globozoospermic patients has shown that the fertilization rates after ICSI with assisted oocyte activation (AOA) are restored to normal when compared with conventional ICSI in globozoospermic patients with and without a mutations in the DPY19L2 gene [17]. Thus, it was proposed that the first-line therapeutic approach for complete globozoospermia should include ICSI with AOA regardless of the DPY19L2 status. Although at present the molecular diagnosis does not influence the choice of treatment in patients with globozoospermia, it is very important for adequate genetic counseling of couples with this rare form of male infertility.

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