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

Elias ElInati, Paul Kuentz, Claire Redin, Sara Jaber, Frauke Vanden Meerschaut, Joelle Makarian, Isabelle Koscinski, Mohammad H. Nasr-Esfahani, Aygul Demirol, Timur Gurgan, Noureddine Louanjli, Naeem Iqbal (+18 others)
2012 Human Molecular Genetics  
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,
more » ... e DPY19L2 deletion, and 7 were compound heterozygous for both this deletion and a point mutation. We also identified four additional mutated patients. The final mutation load in our cohort is 66.7% (36 out of 54). Out of 36 mutated patients, 69.4% are homozygous deleted, 19.4% heterozygous composite and 11.1% showed a homozygous point mutation. The mechanism underlying the deletion is a non-allelic homologous recombination (NAHR) between the flanking †
doi:10.1093/hmg/dds200 pmid:22653751 fatcat:ofj57yd4vffa7pq3fwkii55yle