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PMID 30584989
Gene Name DPY19L2
Condition Globozoospermia
Association Associated
Mutation DPY19L2 deletion
Sex Male
Infertility type Male infertility


Embryos derived from couples with consanguineous marriages with globozoospermia should be screened for gender or DPY19L2 deletion

Ghazavi F, Peymani M, Hashemi MS, Ghaedi K, Nasr-Esfahani MH.

Globozoospermia or round-headed spermatozoa are a rare type of infertility which accounts for <0.1% of male infertility. Several genes are associated with this disease, including DPY19L2, SPATA16, PICK1 and CCIN that DPY19L2 accounts for 75% of globozoospermia. Isfahan Fertility and Infertility Center (IFIC) is a referral centre for globozoospermia, and individuals with globozoospermia are routinely screened for DPY19L2 deletion. In the present study, we have screened six couples with globozoospermia and consanguineous marriages. Genomic DNA both female and male partners were screened for DPY19L2 deletion for exons 1, 11 and 22 as exons most prone to non-homologous recombination. In addition, qPCR was carried out on genomic samples of their partners to determine whether they are heterozygous for DPY19L2 deletion. The results revealed that one female was heterozygous for DPY19L2 deletion. Therefore, this couple decided to undergo intracytoplasmic sperm injection and gender selection and two XX embryos were transferred for this couple and two healthy girls were born. In conclusion, we advise for the couples with DPY19L2-globozoospermia and consanguineous marriages to be screened for DPY19L2 deletion in the hope of reducing occurrence of globozoospermia in future progeny. CI - © 2018 Blackwell Verlag GmbH. FAU - Ghazavi, Fakhereh AU - Ghazavi F AD - Department of Biology, Faculty of Basic Sciences, Shahrekord Branch, Islamic Azad University, Shahrekord, Iran. FAU - Peymani, Maryam AU - Peymani M AUID- ORCID: 0000-0001-5075-5661 AD - Department of Biology, Faculty of Basic Sciences, Shahrekord Branch, Islamic Azad University, Shahrekord, Iran. FAU - Hashemi, Motahare-Sadat AU - Hashemi MS AD - Department of Cellular Biotechnology, Cell Science Research Center, Royan Institute for Biotechnology, ACECR, Isfahan, Iran. FAU - Ghaedi, Kamran AU - Ghaedi K AUID- ORCID: 0000-0002-9790-5644 AD - Department of Cellular Biotechnology, Cell Science Research Center, Royan Institute for Biotechnology, ACECR, Isfahan, Iran. AD - Department of Biology, Faculty of Sciences, University of Isfahan, Isfahan, Iran.