Mutational analysis of Aurora kinase C gene in Egyptian patients with macrozoospermia

Macrozoospermia is a rare syndrome. The key marker of the disease is a high percentage of spermatozoa with abnormal phenotypes namely enlarged head and multiple tails. The presence of at least 70% of spermatozoa with a large head is usually associated with Aurora kinase C gene (AURKC) mutations. We sought to assess AURKC as a potential genetic actor of macrozoospermia in a sample of infertile Egyptian men. We recruited 30 patients and conducted a clinical examination, semen analysis, and DNA sequencing and RFLP for AURKC. We diagnosed 17 patients with characteristic macrozoospermia and classified them into eight severe and nine mild cases. We detected genetic variants of AURKC in five patients (29.4%): Three patients with severe macrozoospermia had c.144delC mutations in exon 3 (37.5% of the severe), and two mild cases had c.1157G>A polymorphism in the 3' UTR (22.2% of the mild). A successful intracytoplasmic sperm injection (ICSI) was achieved only with a severe macrozoospermia patient without apparent AURKC mutation. The present study is the first report to link macrozoospermia and AURKC mutations in Egypt. The study recommends macrozoospermia patients to perform AURKC gene analysis and attempt ICSI, even those with a high percentage of large head spermatozoa.