MCF2 is linked to a complex perisylvian syndrome and affects cortical lamination
Copyright policy )MCF2 is linked to a complex perisylvian syndrome and affects cortical lamination
AbstractThe 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.
- University Hospital of Geneva Switzerland
- University of Geneva Switzerland
- University Hospitals Geneva Medical Center United States
- University Hospitals of Cleveland United States
576.5, Adult, Male, 616.8, Guanine Nucleotide Exchange Factors/genetics, 590, Mutation, Missense, Neurosciences. Biological psychiatry. Neuropsychiatry, 618, Mice, Young Adult, Cell Movement, Intellectual Disability, Proto-Oncogene Proteins, Animals, Guanine Nucleotide Exchange Factors, Humans, Abnormalities, Multiple, Cerebral Cortex/embryology, Motor Neuron Disease, RC346-429, Cerebral Cortex, Animal, Motor Neuron Disease/genetics, Intellectual Disability/genetics, Malformations of Cortical Development, Proto-Oncogene Proteins/genetics, Disease Models, Animal, 616.89, Malformations of Cortical Development/genetics, Multiple/genetics, Disease Models, Mutation, Neurology. Diseases of the nervous system, Abnormalities, Missense, Brief Communications, RC321-571, ddc: ddc:616.89, ddc: ddc:590, ddc: ddc:576.5, ddc: ddc:618, ddc: ddc:616.8
576.5, Adult, Male, 616.8, Guanine Nucleotide Exchange Factors/genetics, 590, Mutation, Missense, Neurosciences. Biological psychiatry. Neuropsychiatry, 618, Mice, Young Adult, Cell Movement, Intellectual Disability, Proto-Oncogene Proteins, Animals, Guanine Nucleotide Exchange Factors, Humans, Abnormalities, Multiple, Cerebral Cortex/embryology, Motor Neuron Disease, RC346-429, Cerebral Cortex, Animal, Motor Neuron Disease/genetics, Intellectual Disability/genetics, Malformations of Cortical Development, Proto-Oncogene Proteins/genetics, Disease Models, Animal, 616.89, Malformations of Cortical Development/genetics, Multiple/genetics, Disease Models, Mutation, Neurology. Diseases of the nervous system, Abnormalities, Missense, Brief Communications, RC321-571, ddc: ddc:616.89, ddc: ddc:590, ddc: ddc:576.5, ddc: ddc:618, ddc: ddc:616.8
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