Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men
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 teratozoosperm...
| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2015-02-01
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| Series: | Asian Journal of Andrology |
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| Online Access: | http://www.ajandrology.com/article.asp?issn=1008-682X;year=2015;volume=17;issue=1;spage=68;epage=73;aulast=Ounis |
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| author | Leyla Ounis Abdelali Zoghmar Charles Coutton Leila Rouabah Maroua Hachemi Delphine Martinez Guillaume Martinez Ines Bellil Douadi Khelifi Christophe Arnoult Julien Fauré Sebti Benbouhedja Abdelkader Rouabah Pierre F Ray |
| author_facet | Leyla Ounis Abdelali Zoghmar Charles Coutton Leila Rouabah Maroua Hachemi Delphine Martinez Guillaume Martinez Ines Bellil Douadi Khelifi Christophe Arnoult Julien Fauré Sebti Benbouhedja Abdelkader Rouabah Pierre F Ray |
| author_sort | Leyla Ounis |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-11T13:14:24Z |
| format | Article |
| id | doaj.art-bfc20cbf6aef4fcbb96891f4a8c1feb6 |
| institution | Directory Open Access Journal |
| issn | 1008-682X 1745-7262 |
| language | English |
| last_indexed | 2024-12-11T13:14:24Z |
| publishDate | 2015-02-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Asian Journal of Andrology |
| spelling | doaj.art-bfc20cbf6aef4fcbb96891f4a8c1feb62022-12-22T01:06:06ZengWolters Kluwer Medknow PublicationsAsian Journal of Andrology1008-682X1745-72622015-02-01171687310.4103/1008-682X.136441Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian menLeyla OunisAbdelali ZoghmarCharles CouttonLeila RouabahMaroua HachemiDelphine MartinezGuillaume Martinez Ines BellilDouadi KhelifiChristophe ArnoultJulien FauréSebti BenbouhedjaAbdelkader RouabahPierre F RayKlinefelter 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.http://www.ajandrology.com/article.asp?issn=1008-682X;year=2015;volume=17;issue=1;spage=68;epage=73;aulast=Ounisaurora kinase C; DPY19L2; globozoospermia; intracytoplasmic sperm injection; infertility; macrozoospermia |
| spellingShingle | Leyla Ounis Abdelali Zoghmar Charles Coutton Leila Rouabah Maroua Hachemi Delphine Martinez Guillaume Martinez Ines Bellil Douadi Khelifi Christophe Arnoult Julien Fauré Sebti Benbouhedja Abdelkader Rouabah Pierre F Ray Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men Asian Journal of Andrology aurora kinase C; DPY19L2; globozoospermia; intracytoplasmic sperm injection; infertility; macrozoospermia |
| title | Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men |
| title_full | Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men |
| title_fullStr | Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men |
| title_full_unstemmed | Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men |
| title_short | Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men |
| title_sort | mutations of the aurora kinase c gene causing macrozoospermia are the most frequent genetic cause of male infertility in algerian men |
| topic | aurora kinase C; DPY19L2; globozoospermia; intracytoplasmic sperm injection; infertility; macrozoospermia |
| url | http://www.ajandrology.com/article.asp?issn=1008-682X;year=2015;volume=17;issue=1;spage=68;epage=73;aulast=Ounis |
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