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April 9, 2026Human Reproduction

Bi-allelic mutations of CAMSAP1 result in teratozoospermia with sperm head and flagella defects in humans

Rui Zheng Yan J Weiwei Zhi Gelin Huang Xinrong Du Hailong Zhang Pakeeza Arzoo Shaiq Y Tan Chaofeng Tu Qinghua Shi Wenming Xu

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Key Points

This research aims to determine the involvement of CAMSAP1 mutations in human male infertility and sperm morphologies.
Cohort of 3757 male infertility patients analyzed through whole-exome sequencing
Functional assays, immunoprecipitation-mass spectrometry, and sperm morphological analyses performed
Characterized CAMSAP1 variants' effects using bioinformatic tools and cell models.
Identified homozygous and compound heterozygous CAMSAP1 variants in individuals from consanguineous and non-consanguineous families respectively
Affected sperm displayed MMAF phenotypes and multiple head abnormalities, including pyriform and amorphous shapes
Variants reduced protein stability significantly and disrupted manchette architecture, leading to nuclear deformation.

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Implication

Uncovers CAMSAP1's role in male infertility, indicating new pathways for treatment.

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Cite This Study

Zheng et al. (2026) studied this question.

synapsesocial.com/papers/6a0566fba550a87e60a1ee58 https://doi.org/10.1093/humrep/deag071

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Loss-of-function variants in CFAP57 , SEPTIN4 , SPEM2 , and CFAP46 cause asthenoteratozoospermiaOriginal Research · 2026
2Sequencing the CCDC146 gene in a large cohort of infertile Chinese men reveals novel mutations in patients with asthenoteratozoospermiaReview · 2026
3Bi-allelic variants in <i>KCNU1</i> cause impaired acrosome reactions and male infertilityother · 2022 · 23 citations
4<i>CEP131</i> Deficiency Leads to Multiple Morphological Abnormalities of the Sperm Flagellum‐Associated Male Infertility via Impaired CEP290 InteractionOriginal Research · 2026
5Biallelic mutations in <i>CFAP54</i> cause male infertility with severe MMAF and NOAOriginal Research · 2023 · 22 citations

Identification of a Novel Biallelic <i>CFAP119</i> Variant in an Infertile Man with Asthenoteratozoospermia2025
A CCNA1 Missense Variant Associated With Chromatid Non‐Disjunction in Abnormal‐Headed Sperm and Male Infertility2026
A comprehensive study of the sperm head defects in MMAF condition and their impact on embryo development in mice2025
Epididymis-derived RNAs in sperm affect the next generation: potential clinical implicationsHuman Reproduction · 2026
Attitude and acceptability of IVF add-ons to improve reproductive outcomes: a focus group qualitative studyHuman Reproduction · 2026

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