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.
Keywords: AURKC gene; Male infertility; Morocco; mutation.
Copyright © 2014 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.