Abstract
PURPOSE: 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.