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Published on: April 4, 2018
Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men
Abdelmajid Eloualid1, Hassan Rouba2, Houria Rhaissi3
1Human Genetic Unit, Research Department, Pasteur Institute, Casablanca, Morocco; Human Developmental Genetic Unit, Pasteur Institute, Paris, France.
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.
Insights
The pathogenic c.144delC mutation in the AURKC gene is common in Moroccan men, contributing to male infertility. Screening is recommended for infertile men with specific sperm abnormalities.
Area of Science:
- Genetics
- Reproductive Biology
- Human Molecular Genetics
Background:
- The AURKC gene plays a crucial role in sperm development.
- Mutations in AURKC are linked to male infertility, particularly teratozoospermia.
Purpose of the Study:
- To determine the carrier frequency of the c.144delC mutation in the AURKC gene within the Moroccan population.
- To assess the contribution of this mutation to male infertility in this demographic.
Main Methods:
- Sanger sequencing of exon 3 of the AURKC gene was performed.
- Genomic DNA was analyzed from 326 infertile men and 450 control men in Morocco.
Main Results:
- The c.144delC AURKC mutation was detected in infertile men with an allelic frequency of 2.14% (homozygous and heterozygous).
- In the control group, the mutation was found only in the heterozygous state at a lower frequency (1%).
- Homozygous patients exhibited macrocephalic and multiflagellar spermatozoa.
Conclusions:
- The AURKC c.144delC mutation exhibits a significant carrier frequency in the Moroccan population.
- Genetic screening for this deletion is advised in infertile males presenting with a high proportion of large-headed and multiflagellar spermatozoa.
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