Kobesiy Maha M, Foda Bardees M, Ali Ola S M, Fahmy Ibrahim, Ismail Somaia M
Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Department of Pediatrics, Endocrinology Division, Medical College of Wisconsin, Milwaukee, WI, USA.
Andrologia. 2020 Aug;52(7):e13619. doi: 10.1111/and.13619. Epub 2020 May 12.
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.
大头精子症是一种罕见的综合征。该疾病的关键标志是具有异常表型（即头部增大和多尾）的精子比例很高。至少70%的大头精子的存在通常与极光激酶C基因（AURKC）突变有关。我们试图在一组埃及不育男性样本中评估AURKC作为大头精子症潜在遗传因素的作用。我们招募了30名患者，并对其进行了临床检查、精液分析以及AURKC的DNA测序和限制性片段长度多态性分析。我们诊断出17名具有典型大头精子症的患者，并将他们分为8例重症和9例轻症。我们在5名患者（29.4%）中检测到了AURKC的基因变异：3例重症大头精子症患者在第3外显子中有c.144delC突变（占重症患者的37.5%），2例轻症患者在3'非翻译区有c.1157G>A多态性（占轻症患者的22.2%）。仅一名无明显AURKC突变的重症大头精子症患者成功进行了胞浆内单精子注射（ICSI）。本研究是埃及首次将大头精子症与AURKC突变联系起来的报告。该研究建议大头精子症患者进行AURKC基因分析并尝试ICSI，即使是那些大头精子比例很高的患者。
