Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population.
OBJECTIVE
Macrozoospermia is a rare condition of male infertility characterized by the presence of close to 100 % large-headed multiflagellar spermatozoa. The homozygous mutation (c.144delC) in aurora kinase C gene (AURKC) has been identified as the most frequent mutation causing macrozoospermia in North African patients. The aim of this study was to evaluate the prevalence of this condition in Tunisia and estimate the frequency of c.144delC mutation among infertile and control populations.


METHODS
Sequencing c.144delC mutation was carried out in 33 macrozoospermic patients among 6652 infertile men. Minisequencing of exon3 was performed in 250 unrelated control individuals to estimate the frequency of c.144delC heterozygosity.


RESULTS
More than 80 % of macrozoospermic patients were c.144delC homozygous. The prevalence of homozygous c.144delC was 0.4 % among infertile men (27/6652). The frequency of heterozygosity was 0.4 % among controls (1/250). Surprisingly, it is five times less common than established in the general population of North Africa (2 %) or in the Moroccan population (1.7 %).


CONCLUSIONS
We show that this mutation is relatively less frequent in the Tunisian population than in other Maghrebian populations. The occurrence of homozygous mutation among infertile men can be attributed to the high rate of consanguinity and its impact on the expression of this autosomal recessive male infertility disorder rather than a high frequency of heterozygous carriers among the general population. This highlights the importance of the molecular analysis of AURKC mutations for infertile men with high percentage of large-headed multiflagellar spermatozoa in order to limit unnecessary in vitro fertilization attempts for them.
Laboratory of Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Teaching Hospital, 4000, Sousse, Tunisia. ghedir.houda@hotmail.fr.
Houda
H
Ghédir
Laboratory of Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Teaching Hospital, 4000, Sousse, Tunisia.
Moez
M
Gribaa
Laboratory of Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Teaching Hospital, 4000, Sousse, Tunisia.
Ons
O
Mamaî
Laboratory of Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Teaching Hospital, 4000, Sousse, Tunisia.
Ilhem
I
Ben Charfeddine
Laboratory of Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Teaching Hospital, 4000, Sousse, Tunisia.
Asma
A
Braham
Laboratory of Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Teaching Hospital, 4000, Sousse, Tunisia.
Abdelbasset
A
Amara
Laboratory of Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Teaching Hospital, 4000, Sousse, Tunisia.
Meriem
M
Mehdi
Laboratory of Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Teaching Hospital, 4000, Sousse, Tunisia.
Ali
A
Saad
Laboratory of Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Teaching Hospital, 4000, Sousse, Tunisia.
Samira
S
Ibala-Romdhane
D000328:Adult; D064108:Aurora Kinase C / Q000235:genetics*; D016022:Case-Control Studies; D005787:Gene Frequency; D005828:Genetics, Population; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007248:Infertility, Male / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D017384:Sequence Deletion; D013094:Spermatozoa / Q000473:pathology*; D014416:Tunisia
C576927:AURKC protein, human; D064108:Aurora Kinase C
AURKC mutations; Macrozoospermia; Male infertility; Tunisia