• PMID: 24484996
• Gene Name: AURKC
• Condition: Infertility
• Association: The c.144delC mutation in AURKC gene was found in patients at homozygous and heterozygous states, with an allelic frequency of 2.14%, whereas in controls this mutation was found only in the heterozygous state, with lower frequency (1%). Homozygous patient
• Mutation: c.144delC
• Population size: 776
• Population details: 326 idiopathic infertile patients, 450 controls
• Age: 25–50 yrs
• Sex: Male
• Infertility type: Male infertility

Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men

Eloualid A, Rouba H, Rhaissi H, Barakat A, Louanjli N, Bashamboo A, McElreavey K.

OBJECTIVE: To evaluate the carrier frequency of the pathogenic c.144delC mutation in AURKC gene and the contribution of this mutation in male infertility in a Moroccan population. DESIGN: Sanger sequencing of exon 3 in AURKC gene in infertile and control patients in Morocco. SETTING: Research institute. PATIENT(S): A total of 326 idiopathic infertile patients, and 450 age-related men. INTERVENTION(S): The incidence of AURKC c.144delC mutation was determined in men with unexplained spermatogenic failure and a control cohort of normospermic fertile men. MAIN OUTCOME MEASURE(S): Genomic DNA was extracted from peripheral blood lymphocytes and the screening of the c.144delC mutation in AURKC gene performed by polymerase chain reaction and sequencing. RESULT(S): The c.144delC mutation in AURKC gene was found in patients at homozygous and heterozygous states, with an allelic frequency of 2.14%, whereas in controls this mutation was found only in the heterozygous state, with lower frequency (1%). Homozygous patients were characterized by macrocephalic and multiflagellar spermatozoa. CONCLUSION(S): Our data indicate that the AURKC c.144delC mutation has a relatively high carrier frequency in the Moroccan population; thus, we recommend screening for this deletion in infertile men with a high percentage of large-headed and multiflagellar spermatozoa. CI - Copyright © 2014 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. FAU - Eloualid, Abdelmajid AU - Eloualid A AD - Human Genetic Unit, Research Department, Pasteur Institute, Casablanca, Morocco; Human Developmental Genetic Unit, Pasteur Institute, Paris, France. Electronic address: abdelmajideloualid@yahoo.fr. FAU - Rouba, Hassan AU - Rouba H AD - Human Genetic Unit, Research Department, Pasteur Institute, Casablanca, Morocco. FAU - Rhaissi, Houria AU - Rhaissi H AD - Faculty of Sciences, Ben M'sik, Casablanca, Morocco. FAU - Barakat, Abdelhamid AU - Barakat A AD - Human Genetic Unit, Research Department, Pasteur Institute, Casablanca, Morocco. FAU - Louanjli, Noureddine AU - Louanjli N AD - Laboratoire d'Analyses Médicales et Biologie de la Reproduction, Casablanca, Morocco. FAU - Bashamboo, Anu AU - Bashamboo A AD - Human Developmental Genetic Unit, Pasteur Institute, Paris, France.