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Cited by 55Sperm and Testicular FunctionGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesGenomics and Rare Diseases

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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Ray, PierreF, Ounis, Leyla, Zoghmar, Abdelali, Coutton, Charles, Rouabah, Leila, Hachemi, Maroua, Martinez, Delphine, Martinez, Guillaume +6 more·2015·Asian Journal of Andrology
DOI 10.4103/1008-682x.136441PMC PMC4291881
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Abstract

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.

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  • The most common genetic causes of macrozoospermia are mutations of the AURKC gene.

    “Several observational studies of a small number of infertile men with macrozoospermia found that the most common genetic causes of this abnormality are the mutations of the AURKC gene”

    From Isolated teratozoospermia: revisiting its relevance in male infertility: a narrative review (2024) · cites this paper as [41]

    The Results report AURKC mutations in 11 of 14 patients with macrozoospermia (78.6%) in this Algerian cohort, and the Introduction says a particular AURKC deletion was identified in most North African patients with the condition. This supports AURKC mutations as a common genetic cause in the populations discussed, but does not establish that they are the most common genetic cause of macrozoospermia generally. (LLM, conf=0.85)

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  • For patients who do not carry AURKC mutations and who have a lower percentage of macrocephalic spermatozoa, only rare spontaneous births or births after ICSI have been reported.

    “For patients who do not carry AURKC mutations and who have a lower percentage of macrocephalic spermatozoa in the ejaculate, only rare spontaneous births or births after ICSI have been reported [36, 42, 43, 45, 46, 47, 48, 49] and ICSI may be debated [50].”

    From Recommendations for Human Sperm Morphology Assessment in 2025: An Expert Review From the French BLEFCO Group (2026) · cites this paper as [49]

    The Results report that the three men without AURKC mutations had milder sperm abnormalities (70%–75% abnormal spermatozoa) and that one ICSI procedure led to the birth of a healthy child. The same section reports a subsequent spontaneous pregnancy, but not a spontaneous birth; the paper also does not establish how rare such births are beyond its cohort. (LLM, conf=0.84)

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Research works printed but not linked: 23

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Authors
Ray, P., 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.
Affiliations
  • University Frères Mentouri Constantine 1 (DZ)
  • Centre National de la Recherche Scientifique (FR)
  • Centre Hospitalier Universitaire de Grenoble (FR)
  • Inserm (FR)
ORCID
Venue
Asian Journal of Andrology
Publisher
Ovid Technologies (Wolters Kluwer Health)
Published
2015
Volume
17
Issue
1
Pages
68
ISSN
1008-682X (ISSN-L)
DOI
10.4103/1008-682x.136441
PMC
PMC4291881
OpenAlex
W2087546681
Cited by
55
References
0
Citations by year
2025: 2 · 2024: 7 · 2023: 2 · 2022: 5 · 2021: 3 · 2020: 10 · 2019: 3 · 2018: 5 · 2017: 5 · 2016: 5 · 2015: 7 · 2012: 1
FWCI
6.33
Type
journal article
Language
en
Open access
Licence
cc-by-nc-sa
Locations
  • Asian Journal of Andrology (publishedVersion, cc-by-nc-sa)
  • PubMed Central (publishedVersion, cc-by-nc-sa)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Topics
  • Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords
AURKC, globozoospermia, teratozoospermia, male infertility, Klinefelter syndrome
MeSH terms
Adult, Algeria, Humans, Infertility, Male, Male, Membrane Proteins, Mutation, Retrospective Studies, Sperm Count, Sperm Head, Sperm Motility, Sperm Tail, Spermatozoa, Sperm Injections, Intracytoplasmic, Aurora Kinase C

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