Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men  

光激酶C基因突变导致的大头精子畸形是阿尔及利亚男性不育症的最常见遗传因素

作　　者：Leyla Ounis Abdelali Zoghmar Charles Coutton Leila Rouabah Maroua Hachemil Delphine Martinez Guillaume Martinez Ines Bellil Douadi Khelifi Christophe Arnoult Julien Faure Sebti Benbouhedja Abdelkader Rouabah Pierre F Ray 

机构地区：[1]Laboratoire de Biologie Moleculaire et Cellulaire, Faculte des Sciences de la Nature et de la Vie, Universite Constantine I, Algerie [2]Clinique Ibn Rochd, Centre de Medecine de la Reproduction, Constantine, Algerie [3]Universite Grenoble Alpes, Grenoble, France [4]Equipe Genetique Epigenetique et Therapies de I'lnfertilitE, CNRS, AGIM, Grenoble, France [5]Laboratoire de GEnetique Chromosomique, CHU Grenoble, Grenoble, France [6]Laboratoire de Biochimie et Genetique Moleculaire, CHU Grenoble, Grenoble, France [7]Equipe Muscle et Pathologies, INSERM U836, Grenoble Institut des Neurosciences, Grenoble, France.

出　　处：《Asian Journal of Andrology》2015年第1期68-73,I0008,共7页亚洲男性学杂志（英文版）

摘　　要：Klinefelter syndrome and Y-chromosomal microdeletion analyses were once the only two genetic tests offered to infertile men. Analyses of aurora kinase C （AURKCj 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 DPY19L2deletion. 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 AURKCmutations are more frequent than Klinefelter syndrome and constitute the leading genetic cause of infertility in North African men. Furthermore, we estimate that AURKCand DPY19L2 molecular defects are 10 and 5 times more frequent, respectively, than Y-microdeletions.Klinefelter syndrome and Y-chromosomal microdeletion analyses were once the only two genetic tests offered to infertile men. Analyses of aurora kinase C （AURKCj 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 DPY19L2deletion. 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 AURKCmutations are more frequent than Klinefelter syndrome and constitute the leading genetic cause of infertility in North African men. Furthermore, we estimate that AURKCand DPY19L2 molecular defects are 10 and 5 times more frequent, respectively, than Y-microdeletions.

关 键 词：aurora kinase C DPY19L2 GLOBOZOOSPERMIA intracytoplasmic sperm injection INFERTILITY macrozoospermia 

分 类 号：R[医药卫生]