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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, 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 low-copy repeats. Here, we characterized a total of nine breakpoints for the  DPY19L2  NAHR-driven deletion that clustered in two recombination hotspots, both containing direct repeat elements ( Alu Sq2 in hotspot 1, THE1B in hotspot 2). Globozoospermia can be considered as a new genomic disorder. This study confirms that  DPY19L2  is the major gene responsible for globozoospermia and enlarges the spectrum of possible mutations in the gene. This is a major finding and should contribute to the development of an efficient molecular diagnosis strategy for globozoospermia.

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