ArticleJournal of human genetics2019
Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility.
Article in Journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 75 citations in OpenAlex.
- The genetic insights of sporadic male infertility: a systematic review of WES and WGS studies (2014-2024).Human genomics · 2026Pooled it
- Novel IFT140 variants cause spermatogenic dysfunction in humans.Molecular genetics & genomic medicine · 2019Trial
- A conserved minimal core and modular extensions make the fungal flagellum.Scientific reports · 2026Article
- CFAP251 Deficiency Induces Male Infertility and PCD-like Ciliary Defects by Disrupting TUBB4B and SLC25A4 Recruitment in Humans and Mice.International journal of biological sciences · 2026Article
- Role of WDR66 in Stemness, Therapy Resistance and Tumor microenvironment modulation in Head and Neck Cancer.International journal of biological sciences · 2026Article
- Mutations in CFAP57 disrupt the localization of MYH10 and IFT88, leading to flagellogenesis failure in humans and mice.Human genomics · 2025Article
- Proximity labeling of axonemal protein CFAP91 identifies EFCAB5 that regulates sperm motility.Nature communications · 2025Article
- Mouse radial spoke 3 is a metabolic and regulatory hub in cilia.Nature structural & molecular biology · 2025Article
- How exome sequencing improves the diagnostics and management of men with non-syndromic infertility.Andrology · 2025Review
- Novel homozygous SPAG17 variants cause human male infertility through multiple morphological abnormalities of spermatozoal flagella related to axonemal microtubule doublets.Asian journal of andrology · 2025Article
- Genetic etiological spectrum of sperm morphological abnormalities.Journal of assisted reproduction and genetics · 2024Review
- WDR64, a testis-specific protein, is involved in the manchette and flagellum formation by interacting with ODF1.Heliyon · 2024Article
- SPEM1 Gene Mutation in a Case with Sperm Morphological Defects Leading to Male Infertility.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- Adenylate kinase phosphate energy shuttle underlies energetic communication in flagellar axonemes.Science China. Life sciences · 2024Article
- Identification of a novel CFAP61 homozygous splicing variant associated with multiple morphological abnormalities of the flagella.Journal of assisted reproduction and genetics · 2024Article
- CCDC28A deficiency causes sperm head defects, reduced sperm motility and male infertility in mice.Cellular and molecular life sciences : CMLS · 2024Article
- Deleterious variant in FAM71D cause male infertility with asthenoteratospermia.Molecular genetics and genomics : MGG · 2024Article
- CCDC189 affects sperm flagellum formation by interacting with CABCOCO1.National science review · 2023Article
- Fast kernel-based association testing of non-linear genetic effects for biobank-scale data.Nature communications · 2023Article
- BBOF1 is required for sperm motility and male fertility by stabilizing the flagellar axoneme in mice.Cellular and molecular life sciences : CMLS · 2023Article
Corrections and comments
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Authors and funding
17 authors at 3 institutions in 1 country.
Funding
Abstract
Multiple morphological abnormalities of flagella (MMAF) are human reproduction disorders due to the dysplastic development of sperm flagella. The spermatozoa of men with MMAF manifest absent, short, coiled, bent, and/or irregular-caliber flagella. Previous studies revealed genetic contributions to human MMAF, but known MMAF-associated genes only explained approximately 50% MMAF cases. In this study, we employed human whole-exome sequencing for genetic analysis and identified biallelic mutations of CFAP251 (cilia- and flagella-associated protein 251, also known as WDR66) in three (5%) of 65 Han Chinese men with MMAF. All these CFAP251 mutations are loss-of-function. The population genome data suggested that these CFAP251 mutations are extremely rare (only heterozygous) or absent from human populations. Our functional assays of gene expression and immunofluorescence staining in a CFAP251-deficient man, together with previous experimental evidence from model organisms, suggested that CFAP251 is involved in flagellar functions. Our observations suggested that CFAP251 is associated with sperm flagellar development and human male infertility.
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