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Cited by 9Sperm and Testicular FunctionGenomics and Rare DiseasesUrologic and reproductive health conditions

Mutational analysis of Aurora kinase C gene in Egyptian patients with macrozoospermia

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Kobesiy, Maha M., Foda, Bardees M., Ali, Ola S.M., Fahmy, Ibrahim, Ismail, Somaia M.·2020·Andrologia
DOI 10.1111/and.13619
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Abstract

Macrozoospermia is a rare syndrome. The key marker of the disease is a high percentage of spermatozoa with abnormal phenotypes namely enlarged head and multiple tails. The presence of at least 70% of spermatozoa with a large head is usually associated with Aurora kinase C gene (AURKC) mutations. We sought to assess AURKC as a potential genetic actor of macrozoospermia in a sample of infertile Egyptian men. We recruited 30 patients and conducted a clinical examination, semen analysis, and DNA sequencing and RFLP for AURKC. We diagnosed 17 patients with characteristic macrozoospermia and classified them into eight severe and nine mild cases. We detected genetic variants of AURKC in five patients (29.4%): Three patients with severe macrozoospermia had c.144delC mutations in exon 3 (37.5% of the severe), and two mild cases had c.1157G>A polymorphism in the 3' UTR (22.2% of the mild). A successful intracytoplasmic sperm injection (ICSI) was achieved only with a severe macrozoospermia patient without apparent AURKC mutation. The present study is the first report to link macrozoospermia and AURKC mutations in Egypt. The study recommends macrozoospermia patients to perform AURKC gene analysis and attempt ICSI, even those with a high percentage of large head spermatozoa.

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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 [42]

    The Introduction says AURKC mutations are widely associated with macrozoospermia, and the Results identify an AURKC mutation in three of eight severe cases. The paper does not compare AURKC with other genetic causes or establish that it is the most common cause of macrozoospermia overall. Page numbers were unavailable in our copy. (LLM, conf=0.82)

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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 [48]

    The Results report one live birth after ICSI in a patient without a recorded AURKC mutation, but that patient had severe, not mild, macrozoospermia. The mild cases undergoing ICSI had no live birth, and the paper does not report spontaneous births in its cohort. The Introduction and Discussion cite successful ICSI in mild cases elsewhere, so the claim has some support, but its combined description of mutation status, lower macrocephalic-sperm percentage and rare births is not established by this paper. (LLM, conf=0.86)

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Research works printed but not linked: 1

  1. El Kerch, F., Lamzouri, A., Laarabi, F. Z., Zahi, M., Ben Amar, B., & Sefiani, A. (2011). [Confirmation of the high prevalence in Morocco of the ho- mozygous mutation c.144delC in the aurora kinase C gene (AURKC) in the teratozoospermia with large-headed spermatozoa]. Journal de Gynécologie Obstétrique et Biologie de la Reproduction, 40, 329-333.

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Authors
Kobesiy, M. M., Foda, B. M., Ali, O. S. M., Fahmy, I., & Ismail, S. M.
Affiliations
  • National Research Centre (EG)
  • Medical College of Wisconsin (US)
  • Al-Azhar University (EG)
  • Cairo University (EG)
Corresponding author
Foda, Bardees M.
ORCID
Venue
Andrologia
Publisher
Wiley
Published
2020-05-12
Volume
52
Issue
7
Pages
e13619-e13619
ISSN
  • 0303-4569 (ISSN-L)
  • 1439-0272
DOI
10.1111/and.13619
OpenAlex
W3025029220
Cited by
9
References
33
Citations by year
2026: 1 · 2025: 2 · 2024: 4 · 2023: 1 · 2022: 1
FWCI
0.44
Type
journal article
Language
en
Open access
Licence
Locations
  • Andrologia (publishedVersion)
  • PubMed (publishedVersion)
Funders
National Research Centre (8/2/13)
Topics
  • Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
  • Health Sciences › Medicine › Rheumatology › Urologic and reproductive health conditions
Keywords
AURKC, male infertility, intracytoplasmic sperm injection, 3'UTR polymorphism, Egyptian patients
MeSH terms
DNA Mutational Analysis, Egypt, Humans, Infertility, Male, Male, Spermatozoa, Aurora Kinase C

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