ArticleAmerican journal of medical genetics. Part A2018
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.
Article in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 28 citations in OpenAlex.
- Neuronal overexpression of Nrf2 reduces dystrophic neurites in 5XFAD Alzheimer's disease model mice.Alzheimer's research & therapy · 2026Article
- The unconventional kinesin Kif26a is required for the guidance of major axon tracts in the developing mouse brain.bioRxiv : the preprint server for biology · 2026Article
- Neuronal overexpression of Nrf2 reduces dystrophic neurites in 5XFAD Alzheimer's disease model mice.bioRxiv : the preprint server for biology · 2026Article
- The evolving genetic landscape of neuromuscular fetal akinesias.Journal of neuromuscular diseases · 2025Review
- Research progress of kinesin family in neurological diseases.Frontiers in cellular neuroscience · 2025Review
- The post-stroke young adult brain has limited capacity to re-express the gene expression patterns seen during early postnatal brain development.Brain pathology (Zurich, Switzerland) · 2024Article
- Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.Nature communications · 2023Article
- Bi-allelic loss-of-function variants inJournal of medical genetics · 2023Article
- Neurexin and frizzled intercept axonal transport at microtubule minus ends to control synapse formation.Developmental cell · 2022Article
- ELK1-induced up-regulation of KIF26B promotes cell cycle progression in breast cancer.Medical oncology (Northwood, London, England) · 2021Article
- Diagnostic Approach to Cerebellar Hypoplasia.Cerebellum (London, England) · 2021Review
- Association of a NovelIranian journal of public health · 2021Article
- Motor Proteins and Spermatogenesis.Advances in experimental medicine and biology · 2021Review
- 'Kinesinopathies': emerging role of the kinesin family member genes in birth defects.Journal of medical genetics · 2020Review
- Pontocerebellar Hypoplasia: a Pattern Recognition Approach.Cerebellum (London, England) · 2020Article
- Preservation of neurons in an AD 79 vitrified human brain.PloS one · 2020Article
- Infant mortality: the contribution of genetic disorders.Journal of perinatology : official journal of the California Perinatal Association · 2019Article
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Authors and funding
16 authors at 6 institutions in 2 countries.
Funding
Abstract
KIF26B is a member of the kinesin superfamily with evolutionarily conserved functions in controlling aspects of embryogenesis, including the development of the nervous system, though its function is incompletely understood. We describe an infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. We performed whole exome sequencing on the trio and identified a de novo KIF26B missense variant, p.Gly546Ser, in the proband. This variant alters a highly conserved amino acid residue that is part of the phosphate-binding loop motif and motor-like domain and is deemed pathogenic by several in silico methods. Functional analysis of the variant protein in cultured cells revealed a reduction in the KIF26B protein's ability to promote cell adhesion, a defect that potentially contributes to its pathogenicity. Overall, KIF26B may play a critical role in the brain development and, when mutated, cause pontocerebellar hypoplasia with arthrogryposis.
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