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DPY19L2 Deletion as a Major Cause of Globozoospermia

DPY19L2 Deletion as a Major Cause of Globozoospermia

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  • Isabelle Koscinski
  • Elias Ellnati
  • Camille Fossard
  • Claire Redin
  • Jean Muller
  • Juan Velez de la Calle
  • Francoise Schmitt
  • Mariem Ben Khelifa
  • Pierre Ray
  • Zaid Kilani
  • Christopher L. R. Barratt
  • Stephane Viville (Lead / Corresponding author)

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Original languageEnglish
Pages (from-to)344-350
Number of pages7
JournalAmerican Journal of Human Genetics
Issue number2011
StatePublished - 11 Mar 2011


Globozoospermia, characterized by round-headed spermatozoa, is a rare (< 0.1% in male infertile patients) and severe teratozoospermia consisting primarily of spermatozoa lacking an acrosome. Studying a Jordanian consanguineous family in which five brothers were diagnosed with complete globozoospermia, we showed that the four out of five analyzed infertile brothers carried a homozygous deletion of 200 kb on chromosome 12 encompassing only DPY19L2. Very similar deletions were found in three additional unrelated patients, suggesting that DPY19L2 deletion is a major cause of globozoospermia, given that 19% (4 of 21) of the analyzed patients had such deletion. The deletion is most probably due to a nonallelic homologous recombination (NAHR), because the gene is surrounded by two low copy repeats (LCRs). We found DPY19L2 deletion in patients from three different origins and two different breakpoints, strongly suggesting that the deletion results from recurrent events linked to the specific architectural feature of this locus rather than from a founder effect, without fully excluding a recent founder effect. DPY19L2 is associated with a complete form of globozoospermia, as is the case for the first two genes found to be associated with globozoospermia, SPATA16 or PICK1. However, in contrast to SPATA16, for which no pregnancy was reported, pregnancies were achieved, via intracytoplasmic sperm injection, for two patients with DPY19L2 deletion, who then fathered three children.

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