• PMID: 21353399
• Gene Name: AURKC
• Condition: Infertility
• Association: 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
• Mutation: c.144delC
• Population size: 18
• Population details: 18 infertile patients
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Macrozoospermia

[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]

El Kerch F, Lamzouri A, Laarabi FZ, Zahi M, Ben Amar B, Sefiani A.

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). CI - Copyright © 2010 Elsevier Masson SAS. All rights reserved. FAU - El Kerch, F AU - El Kerch F AD - Département de génétique médicale, Institut national d'hygiène, 27, avenue Ibn Batouta, BP 769, Rabat, Maroc. FAU - Lamzouri, A AU - Lamzouri A FAU - Laarabi, F Z AU - Laarabi FZ FAU - Zahi, M AU - Zahi M FAU - Ben Amar, B AU - Ben Amar B