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Cited by 21Sperm and Testicular FunctionGenomics and Rare DiseasesReproductive Health and Technologies

Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population

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Ghédir, Houda, Gribaa, Moez, Mamaî, Ons, Ben Charfeddine, Ilhem, Braham, Asma, Amara, Abdelbasset, Mehdi, Meriem, Saad, Ali +1 more·2015·Journal of Assisted Reproduction and Genetics
DOI 10.1007/s10815-015-0565-4PMC PMC4651955
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Abstract

Purpose Macrozoospermia is a rare condition of male infertility characterized by the presence of close to 100 % large-headed multiflagellar spermatozoa. The homozygous mutation (c.144delC) in aurora kinase C gene (AURKC) has been identified as the most frequent mutation causing macrozoospermia in North African patients. The aim of this study was to evaluate the prevalence of this condition in Tunisia and estimate the frequency of c.144delC mutation among infertile and control populations. Methods Sequencing c.144delC mutation was carried out in 33 macrozoospermic patients among 6652 infertile men. Minisequencing of exon3 was performed in 250 unrelated control individuals to estimate the frequency of c.144delC heterozygosity. Results More than 80 % of macrozoospermic patients were c.144delC homozygous. The prevalence of homozygous c.144delC was 0.4 % among infertile men (27/6652). The frequency of heterozygosity was 0.4 % among controls (1/250). Surprisingly, it is five times less common than established in the general population of North Africa (2 %) or in the Moroccan population (1.7 %). Conclusions We show that this mutation is relatively less frequent in the Tunisian population than in other Maghrebian populations. The occurrence of homozygous mutation among infertile men can be attributed to the high rate of consanguinity and its impact on the expression of this autosomal recessive male infertility disorder rather than a high frequency of heterozygous carriers among the general population. This highlights the importance of the molecular analysis of AURKC mutations for infertile men with high percentage of large-headed multiflagellar spermatozoa in order to limit unnecessary in vitro fertilization attempts for them.

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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 [45]

    The Discussion (page unavailable) reports one healthy child after a spontaneous pregnancy in a patient with a milder phenotype and no identified AURKC mutation. It also reports a few successful deliveries after in vitro fertilization in milder cases, but does not specify that those births followed ICSI. (LLM, conf=0.85)

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Cited by

Sorted by citations

Authors
Ghédir, H., Gribaa, M., Mamaî, O., Ben Charfeddine, I., Braham, A., Amara, A., Mehdi, M., Saad, A., & Ibala-Romdhane, S.
Affiliations
Hôpital Farhat Hached (TN)
Corresponding author
Ghédir, Houda
ORCID
Venue
Journal of Assisted Reproduction and Genetics
Publisher
Springer Science and Business Media LLC
Published
2015-09-04
Volume
32
Issue
11
Pages
1651-1658
ISSN
  • 0740-7769 (ISSN-L)
  • 1058-0468
  • 1573-7330
DOI
10.1007/s10815-015-0565-4
PMC
PMC4651955
OpenAlex
W1666620300
Cited by
21
References
1
Citations by year
2026: 1 · 2025: 1 · 2024: 3 · 2023: 1 · 2022: 3 · 2021: 1 · 2020: 2 · 2019: 2 · 2018: 2 · 2017: 1 · 2016: 4
FWCI
2.66
Type
journal article
Language
en
Open access
Licence
www.springer.com/tdm (tdm)
Locations
  • Journal of Assisted Reproduction and Genetics (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
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 › Reproductive Medicine › Reproductive Health and Technologies
Keywords
AURKC, male infertility, homozygosity, consanguinity, autosomal recessive inheritance, Tunisian population, in vitro fertilization
MeSH terms
Adult, Gene Frequency, Genetics, Population, Heterozygote, Homozygote, Humans, Infertility, Male, Male, Middle Aged, Spermatozoa, Tunisia, Case-Control Studies, Sequence Deletion, Aurora Kinase C

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