ArticleNeurogenetics2017
Recurrent KIF2A mutations are responsible for classic lissencephaly.
Article in Neurogenetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 27 citations in OpenAlex.
- Traffic Jams in the Brain: How Kinesin Dysfunction Shapes Neurodevelopmental Disorders.Current issues in molecular biology · 2026Review
- Radiogenomics of congenital brain malformations: Linking embryology, genetics, and imaging.Neuroradiology · 2026Review
- Research progress of kinesin family in neurological diseases.Frontiers in cellular neuroscience · 2025Review
- KLP-7/Kinesin-13 orchestrates axon-dendrite checkpoints for polarized trafficking in neurons.Molecular biology of the cell · 2024Article
- Connecting neurodevelopment to neurodegeneration: a spotlight on the role of kinesin superfamily protein 2A (KIF2A).Neural regeneration research · 2024Review
- Mutations obstructing ATP's emplacement in KIF2A nucleotide-binding pocket causes parenchymal malformations, motor developmental delay, with intellectual disability.Molecular genetics & genomic medicine · 2023Article
- KIF2A deficiency causes early-onset neurodegeneration.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Brain Organization and Human Diseases.Cells · 2022Review
- Inhibitory synapse dysfunction and epileptic susceptibility associated with KIF2A deletion in cortical interneurons.Frontiers in molecular neuroscience · 2022Article
- The essential role of primary cilia in cerebral cortical development and disorders.Current topics in developmental biology · 2021Review
- Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.Nature communications · 2020Article
- Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny.Human molecular genetics · 2020Article
- Transcriptome Response and Spatial Pattern of Gene Expression in the Primate Subventricular Zone Neurogenic Niche After Cerebral Ischemia.Frontiers in cell and developmental biology · 2020Article
- Postnatal Role of the Cytoskeleton in Adult Epileptogenesis.Cerebral cortex communications · 2020Article
- Comprehensive genotype-phenotype correlation in lissencephaly.Quantitative imaging in medicine and surgery · 2018Review
- The MLL recombinome of acute leukemias in 2017.Leukemia · 2018Article
- KIF2A regulates the development of dentate granule cells and postnatal hippocampal wiring.eLife · 2018Article
- A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.American journal of human genetics · 2017Article
- Regulation of neural stem cell proliferation and differentiation by Kinesin family member 2a.PloS one · 2017Article
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Authors and funding
15 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Kinesins play a critical role in the organization and dynamics of the microtubule cytoskeleton, making them central players in neuronal proliferation, neuronal migration, and postmigrational development. Recently, KIF2A mutations were identified in cortical malformation syndromes associated with microcephaly. Here, we detected two de novo p.Ser317Asn and p.His321Pro mutations in KIF2A in two patients with lissencephaly and microcephaly. In parallel, we re-evaluated the two previously reported cases showing de novo mutations of the same residues. The identification of mutations only in the residues Ser317 and His321 suggests these are hotspots for de novo mutations. Both mutations lead to a classic form of lissencephaly, with a posterior to anterior gradient, almost indistinguishable from LIS1-related lissencephaly. However, three fourths of patients also showed variable congenital and postnatal microcephaly, up to -5 SD. Located in the motor domain of the KIF2A protein, the Ser317 and His321 alterations are expected to disrupt binding or hydrolysis of ATP and consequently the MT depolymerizing activity. This report also establishes that KIF2A mutations represent significant causes of classic lissencephaly with microcephaly.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.