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


METHODS
Sanger sequencing of exon 3 in AURKC gene in infertile and control patients in Morocco.


METHODS
Research institute.


METHODS
A total of 326 idiopathic infertile patients, and 450 age-related men.


METHODS
The incidence of AURKC c.144delC mutation was determined in men with unexplained spermatogenic failure and a control cohort of normospermic fertile men.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Human Genetic Unit, Research Department, Pasteur Institute, Casablanca, Morocco; Human Developmental Genetic Unit, Pasteur Institute, Paris, France. Electronic address: abdelmajideloualid@yahoo.fr.
Abdelmajid
A
Eloualid
Human Genetic Unit, Research Department, Pasteur Institute, Casablanca, Morocco.
Hassan
H
Rouba
Faculty of Sciences, Ben M'sik, Casablanca, Morocco.
Houria
H
Rhaissi
Human Genetic Unit, Research Department, Pasteur Institute, Casablanca, Morocco.
Abdelhamid
A
Barakat
Laboratoire d'Analyses Médicales et Biologie de la Reproduction, Casablanca, Morocco.
Noureddine
N
Louanjli
Human Developmental Genetic Unit, Pasteur Institute, Paris, France.
Anu
A
Bashamboo
Human Developmental Genetic Unit, Pasteur Institute, Paris, France.
Ken
K
McElreavey
D000328:Adult; D064108:Aurora Kinase C / Q000235:genetics*; D006580:Genetic Carrier Screening / Q000379:methods*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007248:Infertility, Male / Q000453:epidemiology* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009018:Morocco; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015995:Prevalence; D012307:Risk Factors
C576927:AURKC protein, human; D064108:Aurora Kinase C
AURKC gene; Male infertility; Morocco; mutation