[Confirmation of the high prevalence in Morocco of the homozygous mutation c.144delC in the aurora kinase C gene (AURKC) in the teratozoospermia with large-headed spermatozoa]

Abstract

Objectives: To confirm the recurrent character of the mutation c.144delC in the aurora kinase C (AURKC) gene in Morocco and determine the indication and the interest of the research of this anomaly.

Patients and methods: We looked for the mutation c.144delC in the AURKC gene in 18 infertile Moroccan patients. They were seen in medical genetic consultation within the framework of the preparatory assessment for medically-assisted procreation. Genomic DNA was extracted from 5 ml of EDTA-blood. The gene AURKC exon 3 was amplified by PCR then sequenced by using the Big-Dye Terminator V3.1 kit and an ABI Prism 310 Genetic Analyzer (Applied Biosystems).

Results: All the patients who had a typical phenotype with high rates of large-headed spermatozoa were homozygous for the mutation c.144delC in the AURKC gene.

Conclusion: We confirm in this study the research interest of the recurrent mutation c.144delC in the gene AURKC in male infertility with high rates of large-headed spermatozoa. This molecular analysis avoids to many infertile couples unnecessary expenses and succession failures in case of use of medically-assisted procreation (MAP).