Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.

@article{Elinati2012GlobozoospermiaIM,
  title={Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.},
  author={Elias Elinati and Paul Kuentz and Claire Redin and Sara Jaber and Frauke Vanden Meerschaut and Joelle Makarian and Isabelle Koscinski and Mohammad-Hossein Nasr-Esfahani and Aygul Demirol and Timur Gurgan and Noureddine Louanjli and Naeem Iqbal and Mazen Bisharah and Fr{\'e}d{\'e}rique Carr{\'e} Pigeon and Hamid Gourabi and Dominique de Briel and Florence Brugnon and Susan A. Gitlin and Jean-Marc Grillo and Kamran Ghaedi and Mohammad Reza Deemeh and Somayeh Tanhaei and Parastoo Modarres and Bj{\"o}rn Heindryckx and Moncef Benkhalifa and Dimitra Nikiforaki and Sergio Carlos Oehninger and Petra de Sutter and Jean Muller and St{\'e}phane Viville},
  journal={Human molecular genetics},
  year={2012},
  volume={21 16},
  pages={3695-702}
}
To date, mutations in two genes, SPATA16 and DPY19L2, have been identified as responsible for a severe teratozoospermia, namely globozoospermia. The two initial descriptions of the DPY19L2 deletion lead to a very different rate of occurrence of this mutation among globospermic patients. In order to better estimate the contribution of DPY19L2 in globozoospermia, we screened a larger cohort including 64 globozoospermic patients. Twenty of the new patients were homozygous for the DPY19L2 deletion… CONTINUE READING
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