Prevalence of the Aurora kinase C c144delC mutation in infertile Moroccan men

Capsule:
The AURKC gene causes male infertility in humans. Here we demonstrate that the AURKC c.144delC has a relatively high carrier frequency in the Moroccan population.

Authors:
Abdelmajid Eloualid Ph.D., Hassan Rouba Ph.D., Houria Rhaissi Ph.D., Abdelhamid Barakat Ph.D., Noureddine Louanjli M.D., Anu Bashamboo Ph.D., Ken McElreavey, Ph.D.

Volume 101, Issue 4, Pages 1086-1090

Abstract:

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.

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