A Homozygous Deletion of the DPY19L2 Gene is a Cause of Globozoospermia in Men From the Republic of Macedonia

1. Perrin A, Coat C, Nguyen MH, Talagas M, Morel F, Amice J, et al. Molecular cytogenetic and genetic aspects of globozoospermia: a review. Andrologia. 2013; 45(1): 1-9.10.1111/j.1439-0272.2012.01308.xSearch in Google Scholar

2. Florke-Gerloff S, Topfer-Petersen E, Muller-Esterl W, Mansouri A, Schatz R, Schirren C, et al. Biochemical and genetic investigation of roundheaded spermatozoa in infertile men including two brothers and their father. Andrologia. 1984; 16(3): 187-202.10.1111/j.1439-0272.1984.tb00262.xSearch in Google Scholar

3. Carrell DT, Emery BR, Liu L. Characterization of aneuploidy rates, protamine levels, ultrastructure, and functional ability of round-headed sperm from two siblings and implications for intracytoplasmic sperm injection. Fertil Steril. 1999; 71(3): 511-516.10.1016/S0015-0282(98)00498-1Search in Google Scholar

4. Kilani Z, Ismail R, Ghunaim S, Mohamed H, Hughes D, Brewis I, et al. Evaluation and treatment of familial globozoospermia in five brothers. Fertil Steril. 2004; 82(5): 1436-1439.10.1016/j.fertnstert.2004.03.064Search in Google Scholar

5. Dirican EK, Isik A, Vicdan K, Sozen E, Suludere Z. Clinical pregnancies and livebirths achieved by intracytoplasmic injection of round headed acrosomeless spermatozoa with and without oocyte activation in familial globozoospermia: case report. Asian J Androl. 2008; 10(2): 332-336.10.1111/j.1745-7262.2008.00248.xSearch in Google Scholar

6. Christensen GL, Ivanov IP, Atkins JF, Campbell B, Carrell DT. Identification of polymorphisms in the Hrb, GOPC, and Csnk2a2 genes in two men with globozoo-spermia. J Androl. 2006; 27(1): 11-15.10.2164/jandrol.05087Search in Google Scholar

7. Dam AH, Koscinski I, Kremer JA, Moutou C, Jaeger AS, Oudakker AR, et al. Homozygous mutation in SPATA 16 is associated with male infertility in human globozoospermia. Am J Hum Genet. 2007; 81(4): 813-820.10.1086/521314Search in Google Scholar

8. Liu G, Shi QW, Lu GX. A newly discovered mutation in PICK1 in a human with globozoospermia. Asian J Androl. 2010; 12(4): 556-560.10.1038/aja.2010.47Search in Google Scholar

9. Dam AH, Feenstra I, Westphal JR, Ramos L, van Golde RJ, Kremer JA. Globozoospermia revisited. Hum Reprod Update. 2007; 13(1): 63-75.10.1093/humupd/dml047Search in Google Scholar

10. Koscinski I, Elinati E, Fossard C, Redin C, Muller J, Velez de la Calle J, et al. DPY19L2 deletion as a major cause of globozoospermia. Am J Hum Genet. 2011; 88(3): 344-350.10.1016/j.ajhg.2011.01.018Search in Google Scholar

11. Harbuz R, Zouari R, Pierre V, Ben Khelifa M, Kharouf M, Coutton C, et al. A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation. Am J Hum Genet. 2011; 88(3): 351-361.10.1016/j.ajhg.2011.02.007Search in Google Scholar

12. Elinati E, Kuentz P, Redin C, Jaber S, Vanden Meerschaut F, Makarian J, et al. Globozoospermia is mainly due to DPY19L2 deletion via nonallelic homologous recombination involving two recombination hotspots. Hum Mol Genet. 2012; 21(16): 3695-3702.10.1093/hmg/dds200Search in Google Scholar

13. Zhu F, Gong F, Lin G, Lu G. DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations. Mol Hum Reprod. 2013; 19(6): 395-404.10.1093/molehr/gat018Search in Google Scholar

14. Koressaar T, Remm M. Enhancements and modifications of primer design program Primer3. Bioinformatics. 2007; 23(10): 1289-1291.10.1093/bioinformatics/btm091Search in Google Scholar

15. S ahu B, Ozturk O, Serhal P. Successful pregnancy in globozoospermia with severe oligoasthenospermia after ICSI. J Obstet Gynaecol. 2010; 30(8): 869-870.10.3109/01443615.2010.515321Search in Google Scholar

16. Rybouchkin A, Dozortsev D, Pelinck MJ, De Sutter P, Dhont M. Analysis of the oocyte activating capacity and chromosomal complement of round-headed human spermatozoa by their injection into mouse oocytes. Hum Reprod. 1996; 11(10): 2170-2175.10.1093/oxfordjournals.humrep.a019071Search in Google Scholar

17. Kuentz P, Vanden Meerschaut F, Elinati E, Nasr- Esfahani MH, Gurgan T, Iqbal N, et al. Assisted oocyte activation overcomes fertilization failure in globozoosper-mic patients regardless of the DPY19L2 status. Hum Reprod. 2013; 28(4): 1054-1061.10.1093/humrep/det005Search in Google Scholar