Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.
Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.
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DOI：
10.4103/1008-682x.136441
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发表时间：
2015-01
影响因子：
2.9
通讯作者：
Ray PF
中科院分区：
文献类型：
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作者：
Ounis L;Zoghmar A;Coutton C;Rouabah L;Hachemi M;Martinez D;Martinez G;Bellil I;Khelifi D;Arnoult C;Fauré J;Benbouhedja S;Rouabah A;Ray PF
Klinefelter综合征和Y染色体微缺失分析曾经是提供给不育男性的仅有的两种基因检测。极光激酶C（AURKC）和DPY19L2的分析现在被推荐分别用于表现为巨精子症和球形精子症的患者，这两种罕见的畸形精子症在北非男性中特别常见。我们对阿尔及利亚患者进行了遗传分析，以评估这些综合征在该人群中的患病率，并将其与Klinefelter综合征和Y微缺失的预期频率进行比较。我们对阿尔及利亚君士坦丁市Ibn Rochd Clinique辅助生殖中心咨询夫妇不孕症的599例连续患者进行了回顾性研究。在404例男性中观察到精子参数异常。分别有14名和7名男性有典型的巨精症和球形精子症。对这些患者进行AURKC和DPY19L2基因的分子诊断。11例巨精子症患者有纯合子AURKC突变（79%），占所有精子图异常患者的2.7%。所有男性球形精子症研究（n = 5），相当于所有不育男性的1.2%，提出了纯合子DPY19L2缺失。相比之下，我们预计该队列中1.6%的患者患有Klinefelter综合征，0.23%的患者患有Y微缺失。因此，我们的研究结果表明，AURKC突变比Klinefelter综合征更常见，是北非男性不育的主要遗传原因。此外，我们估计AURKC和DPY19L2分子缺陷的频率分别是Y微缺失的10倍和5倍。
Klinefelter syndrome and Y-chromosomal microdeletion analyses were once the only two genetic tests offered to infertile men. Analyses of aurora kinase C (AURKC) and DPY19L2 are now recommended for patients presenting macrozoospermia and globozoospermia, respectively, two rare forms of teratozoospermia particularly frequent among North African men. We carried out genetic analyses on Algerian patients, to evaluate the prevalence of these syndromes in this population and to compare it with the expected frequency of Klinefelter syndrome and Y-microdeletions. We carried out a retrospective study on 599 consecutive patients consulting for couple infertility at the assisted reproduction unit of the Ibn Rochd Clinique, Constantine, Algeria. Abnormal sperm parameters were observed in 404 men. Fourteen and seven men had typical macrozoospermia and globozoospermia profiles, respectively. Molecular diagnosis was carried out for these patients, for the AURKC and DPY19L2 genes. Eleven men with macrozoospermia had a homozygous AURKC mutation (79%), corresponding to 2.7% of all patients with abnormal spermograms. All the men with globozoospermia studied (n = 5), corresponding to 1.2% of all infertile men, presented a homozygous DPY19L2 deletion. By comparison, we would expect 1.6% of the patients in this cohort to have Klinefelter syndrome and 0.23% to have Y-microdeletion. Our findings thus indicate that AURKC mutations are more frequent than Klinefelter syndrome and constitute the leading genetic cause of infertility in North African men. Furthermore, we estimate that AURKC and DPY19L2 molecular defects are 10 and 5 times more frequent, respectively, than Y-microdeletions.