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| 1 | 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显示文摘克氏综合征和Y染色体微缺失是过去针对男性不育症仅有的两项基因检测分析技术。北非男性经常出现两种罕见的畸形精子症:大头和圆头精子畸形,推荐进行AURKC和DPYl9L2基因检测。对阿尔及利亚男性不育患者进行以上基因检测,评估两种畸形精子症的患病率,并与克氏综合征和Y染色体微缺失的频率进行比较。我们对阿尔及利亚君士坦丁市的IbnRochd医院辅助生殖中心进行不育症咨询的599名患者进行了回顾性研究,其中404人存在精液参数异常现象。14人和7人分别患有典型的大头精子畸形或圆头精子畸形,进而对这些患者进行了AURKC和DPYl9L2基因分析显示,11名大头精子畸形患者存在4URKC基因突变(79%),相当于所有精液异常人群的2.7%。而5名圆头精子畸形患者,相当于1.2%的不育症患者,均存在DPYl9L2基因缺失。通过比较,我们预测该人群中克氏综合症和Y染色体微缺失的患病率分别是1.6%和0.23%。我们的研究表明AURKC基因突变较克氏综合症更常见,它是导致北非男性不育的主要遗传因素。此外,本文也预测了AURKC和DP"觋2基因缺陷发生率分别是Y染色体微缺失发生率的10倍和5倍。 | 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 | 2015 | Asian Journal of Andrology2015，17，1： | 5 |
| 2 | From azoospermia to macrozoospermia,a phenotypic continuum due to mutations in the ZMYND15 gene显示文摘Thanks to tremendous advances in sequencing technologies and in particular to whole exome sequencing(WES),many genes have now been linked to severe sperm defects.A precise genetic diagnosis is obtained for a minority of patients and only for the most severe defects like azoospermia or macrozoospermia which is very often due to defects in the aurora kinase C(AURKC)gene.Here,we studied a subject with a severe oligozoospermia and a phenotypic diagnosis of macrozoospermia.AURKC analysis did not reveal any deleterious variant.WES was then initiated which permitted to identify a homozygous loss of function variant in the zinc finger MYND-type containing 15(ZMYND15)gene.ZMYND15 has been described to serve as a switch for haploid gene expression,and mice devoid of ZMYND15 were shown to be sterile due to nonobstructive azoospermia(NOA).In man,ZMYND15 has been associated with NOA and severe oligozoospermia.We confirm here that the presence of a bi-allelic ZMYND15 variant induces a severe oligozoospermia.In addition,we show that severe oligozoospermia can be associated macrozoospermia,and that a phenotypic misdiagnosis is possible,potentially delaying the genetic diagnosis.In conclusion,genetic defects in ZMYND15 can induce complete NOA or severe oligozoospermia associated with a very severe teratozoospermia.In our experience,severe oligozoospermia is often associated with severe teratozoospermia and can sometimes be misinterpreted as macrozoospermia or globozoospermia.In these instances,specific AURKC or dpy-19 like 2(DPY19L2)diagnosis is usually negative and we recommend the direct use of a pan-genomic techniques such as WES. | Zine-Eddine Kherraf Caroline Cazin Florence Lestrade Jana Muronova Charles Coutton Christophe Arnoult Nicolas Thierry-Mieg Pierre F Ray | 2022 | Asian Journal of Andrology2022，24，3： | 2 |
| 3 | Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters显示文摘Macrozoospermia,characterized by the presence of largeheaded spermatozoa usually carrying several flagella,is one of the most severe phenotypes of male infertility.As in most cases,the gametes are chromosomally abnormal and cannot be used for assisted reproductive technologies(ART)(Ray et al.,2017).In 2007,subjects from consanguineous families were shown to carry the same homozygous deleterious AURKC variant(NM_001015878.2:c.144delC,later renamed c.145delC,p.Leu49TrpfsTer23),establishing AURKC as the first and main gene associated with macrozoospermia(Dieterich et al.,2007).Using flow cytometry,all spermatozoa from patients homozygous for the c.145delC variant were shown to be tetraploid,highlighting a cytokinesis blockage of the first meiotic divisions thus confirming that ART cannot be successful for these patients(Dieterich et al.,2009). | Alicia Coudert Caroline Cazin Amir Amiri-Yekta Selima Fourati Ben Mustapha Raoudha Zouari Julien Bessonat Abdelali Zoghmar Antoine Clergeau Catherine Metzler-Guillemain Chema Triki Herve Lejeune Nathalie Sermondade Eva Pipiras Nadia Prisant Isabelle Cedrin Leila Keskes Florence Lestrade Laetitia Hesters Nathalie Rives Beatrice Dorphin Agnes Guichet Catherine Patrat Emmanuel Dulioust Aur elie Feraille Franc ois Robert Eric Bieth Arthur Sorlin Jean-Pierre Siffroi Mariem Ben Khelifa Florence Boiterelle Sylvianne Hennebicq Veronique Satre Christophe Arnoult Charles Coutton Anne-Laure Barbotin Nicolas Thierry-Mieg Zine-Eddine Kherraf Pierre F.Ray | 2023 | Journal of Genetics and Genomics2023，50，7： | 0 |
| 4 | Commentary on "morphological characteristics and initial genetic study of multiple morphological anomalies of the flagella in China"显示文摘 | Charles Coutton Christophe Arnoult Pierre F Ray | 2016 | Asian Journal of Andrology2016，18，5： | 0 |
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