Nickan Research Institute Immunopathologia Persa 2423-8015 13 1 2027 01 01 AURKC mutation beyond macrozoospermia: a case report and literature review on a novel exon 7 variant linked to acephalic sperm morphology e44000 e44000 10.34172/ipp.2026.44000 EN Mohammad Eslami https://orcid.org/0000-0001-9543-2938 Saman Abdollahpour https://orcid.org/0009-0004-5002-3507 Parisa Pouyan https://orcid.org/0009-0003-6400-1010 Atena Talebpoor Amirhandeh https://orcid.org/0009-0002-1923-837X Marjan Sabbaghian https://orcid.org/0000-0001-9439-268X Farzaneh Kianifar https://orcid.org/0000-0003-0876-9116 Amir Reza Vahid Dastjerdi https://orcid.org/0000-0003-0046-2654 Nima Vosoughi https://orcid.org/0000-0002-2461-9321 Roya Olad Masihi https://orcid.org/0009-0008-5499-6428 Reza Mohajer Shirazi https://orcid.org/0009-0006-9167-9849 Mehnoosh Shojaei https://orcid.org/0009-0002-2128-2556 Sanaz Amiri Marbini https://orcid.org/0009-0007-3752-8895 Journal Article 10.34172/ipp.2026.44000 2025 09 30 2026 02 27 Acephalic spermatozoa syndrome is a rare and severe form of teratozoospermia caused by defects in the head–tail coupling apparatus. Several genes, including SUN5, PMFBP1, and TSGA10, have been implicated. AURKC mutations, however, are traditionally associated with macrozoospermia and have not previously been linked to this syndrome. We report a consanguineous case of male infertility characterized by >90% acephalic spermatozoa and a novel heterozygous missense mutation in exon 7 of the AURKC gene (c.203A>G, p.Arg→Gly). This mutation has not been previously described in association with any sperm morphology defect other than macrozoospermia. The patient had no history of macrocephalic sperm, and standard semen analysis confirmed a monomorphic acephalic phenotype. This is the first report of a heterozygous AURKC exon 7 mutation associated with acephalic spermatozoa syndrome. The case expands the known phenotypic spectrum of AURKC-related infertility and highlights the importance of full-gene sequencing in patients with severe sperm morphological abnormalities.