ArticleHuman molecular genetics2019
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.
Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 48 citations in OpenAlex.
- Traffic Jams in the Brain: How Kinesin Dysfunction Shapes Neurodevelopmental Disorders.Current issues in molecular biology · 2026Review
- The Cilia-Associated Protein CCDC89 Is Dispensable for Male Fertility in Mice.Cytoskeleton (Hoboken, N.J.) · 2026Article
- KIF14 silencing suppresses cell proliferation and enhances chemosensitivity by modulating 53BP1 nucleocytoplasmic shuttling in non-WNT/non-SHH medulloblastoma.Cell death discovery · 2026Article
- Validation of the important role and prognostic value of KIF14 in triple-negative breast cancer.Cancer biology & therapy · 2025Article
- Article
- The midbody and midbody remnant: from cellular debris to signaling organelle with diagnostic and therapeutic potential.Molecular biology of the cell · 2025Review
- Genetic variants underlying congenital Zika syndrome and severe microcephaly: a systematic review and meta-analysis.Virusdisease · 2025Article
- RNA-seq analysis reveals changes in mRNA expression during development in Daphnia mitsukuri.BMC genomics · 2024Article
- Sleep Disorder Kleine-Levin Syndrome (KLS) Joins the List of Polygenic Brain Disorders Associated with Obstetric Complications.Cellular and molecular neurobiology · 2023Review
- The impact of TP53 activation and apoptosis in primary hereditary microcephaly.Frontiers in neuroscience · 2023Review
- Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medullary collecting duct cells, independently of nephrocystin-1 and nephrocystin-4.Frontiers in molecular biosciences · 2023Article
- Article
- Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- Teleost Fish and Organoids: Alternative Windows Into the Development of Healthy and Diseased Brains.Frontiers in molecular neuroscience · 2022Review
- Kinesins in Mammalian Spermatogenesis and Germ Cell Transport.Frontiers in cell and developmental biology · 2022Review
- The role of cuproptosis-related gene in the classification and prognosis of melanoma.Frontiers in immunology · 2022Article
- Cytokinetic Abscission Regulation in Neural Stem Cells and Tissue Development.Current stem cell reports · 2021Article
- Expanding the KIF4A-associated phenotype.American journal of medical genetics. Part A · 2021Article
- Inhibiting microcephaly genes as alternative to microtubule targeting agents to treat brain tumors.Cell death & disease · 2021Review
- Rgs4 is a regulator of mTOR activity required for motoneuron axon outgrowth and neuronal development in zebrafish.Scientific reports · 2021Article
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Authors and funding
23 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in KIF14 have previously been associated with either severe, isolated or syndromic microcephaly with renal hypodysplasia (RHD). Syndromic microcephaly-RHD was strongly reminiscent of clinical ciliopathies, relating to defects of the primary cilium, a signalling organelle present on the surface of many quiescent cells. KIF14 encodes a mitotic kinesin, which plays a key role at the midbody during cytokinesis and has not previously been shown to be involved in cilia-related functions. Here, we analysed four families with fetuses presenting with the syndromic form and harbouring biallelic variants in KIF14. Our functional analyses showed that the identified variants severely impact the activity of KIF14 and likely correspond to loss-of-function mutations. Analysis in human fetal tissues further revealed the accumulation of KIF14-positive midbody remnants in the lumen of ureteric bud tips indicating a shared function of KIF14 during brain and kidney development. Subsequently, analysis of a kif14 mutant zebrafish line showed a conserved role for this mitotic kinesin. Interestingly, ciliopathy-associated phenotypes were also present in mutant embryos, supporting a potential direct or indirect role for KIF14 at cilia. However, our in vitro and in vivo analyses did not provide evidence of a direct role for KIF14 in ciliogenesis and suggested that loss of kif14 causes ciliopathy-like phenotypes through an accumulation of mitotic cells in ciliated tissues. Altogether, our results demonstrate that KIF14 mutations result in a severe syndrome associating microcephaly and RHD through its conserved function in cytokinesis during kidney and brain development.
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