ArticleJournal of human genetics2022
Further delineation of KIF21B-related neurodevelopmental disorders.
Article in Journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Myelin Dynamics at the Axon-Oligodendrocyte Interface: Adaptive Conduction Homeostasis in Demyelination, Remyelination and White Matter Repair.International journal of molecular sciences · 2026Review
- Non-transport functions of motor proteins in corticogenesis.Frontiers in cell and developmental biology · 2026Review
- De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.European journal of human genetics : EJHG · 2024Article
- Article
- Recent advances in novel mutation genes of Parkinson's disease.Journal of neurology · 2023Review
- Kif21B mediates the effect of estradiol on the morphological plasticity of mouse hippocampal neurons.Frontiers in molecular neuroscience · 2023Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
Kinesin Family Member 21B (KIF21B) encoded by KIF21B (MIM*608322), belongs to the Kinesin superfamily proteins, which play a key role in microtubule organisation in neuronal dendrites and axons. Recently, heterozygous variants in KIF21B were implicated as the cause of intellectual disability and brain malformations in four unrelated individuals. We report a 9-year-old male with delayed speech, hyperactivity, poor social interaction, and autistic features. A parent-offspring trio exome sequencing identified a novel de novo rare heterozygous variant, NM_001252102.2: c.1513A>C, p.(Ser505Arg) in exon 11 of KIF21B. In vivo functional analysis using in utero electroporation in mouse embryonic cortex revealed that the expression of Ser505Arg KIF21B protein in the cerebral cortex impaired the radial migration of projection neurons, thus confirming the pathogenicity of the variant. Our report further validates pathogenic variants in KIF21B as a cause of neurodevelopmental disorder.
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Registered trials
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