ArticleAnnals of clinical and translational neurology2020
MCF2 is linked to a complex perisylvian syndrome and affects cortical lamination.
Article in Annals of clinical and translational neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 9 citations in OpenAlex.
- Sex-specific associations of gene expression with Alzheimer's disease neuropathology and ante-mortem cognitive performance.Nature communications · 2025Article
- Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.Genome research · 2025Article
- Transcriptional control of motor pool formation and motor circuit connectivity by the LIM-HD protein Isl2.eLife · 2023Article
- Subclass-specific expression patterns of MET receptor tyrosine kinase during development in medial prefrontal and visual cortices.The Journal of comparative neurology · 2023Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
The combination of congenital bilateral perisylvian syndrome (CBPS) with lower motor neuron dysfunction remains unusual and suggests a potential common genetic insult affecting basic neurodevelopmental processes. Here we identify a putatively pathogenic missense mutation in the MCF2 gene in a boy with CBPS. Using in utero electroporation to genetically manipulate cortical neurons during corticogenesis, we demonstrate that the mouse Mcf2 gene controls the embryonic migration of cortical projection neurons. Strikingly, we find that the CBPS-associated MCF2 mutation impairs cortical laminar positioning, supporting the hypothesis that alterations in the process of embryonic neuronal migration can lead to rare cases of CBPS.
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