• PMID: 21397063
• Gene Name: DPY19L2
• Condition: Globozoospermia
• Association: Associated
• Mutation: DPY19L2 deletion
• Sex: Male
• Infertility type: Male infertility
• Associated genes: DPY19L2, SPATA16, PICK1
• Other associated phenotypes: Globozoospermia

DPY19L2 deletion as a major cause of globozoospermia

Koscinski I, Elinati E, Fossard C, Redin C, Muller J, Velez de la Calle J, Schmitt F, Ben Khelifa M, Ray PF, Kilani Z, Barratt CL, Viville S.

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. CI - Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. FAU - Koscinski, Isabelle AU - Koscinski I AD - Service de Biologie de la Reproduction, Centre Hospitalier Universitaire, Strasbourg, France. FAU - Elinati, Elias AU - Elinati E FAU - Fossard, Camille AU - Fossard C FAU - Redin, Claire AU - Redin C FAU - Muller, Jean AU - Muller J FAU - Velez de la Calle, Juan AU - Velez de la Calle J FAU - Schmitt, Françoise AU - Schmitt F FAU - Ben Khelifa, Mariem AU - Ben Khelifa M FAU - Ray, Pierre F AU - Ray PF FAU - Kilani, Zaid AU - Kilani Z FAU - Barratt, Christopher L R AU - Barratt CL