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Ann Clin Transl Neurol. 2020 Jan;7(1):121-125. doi: 10.1002/acn3.50949. Epub 2019 Dec 17.

MCF2 is linked to a complex perisylvian syndrome and affects cortical lamination.

Author information

1
Department of Psychiatry, University of Geneva Medical School, Geneva, 4 CH-1211, Switzerland.
2
Department of Basic Neurosciences, University of Geneva Medical School, Geneva, 4 CH-1211, Switzerland.
3
Institute of Genetics and Genomics in Geneva (IGe3), University of Geneva Medical Center (CMU), Geneva, 4 CH-1211, Switzerland.
4
Pediatric Neurology Unit, Pediatric Subspecialties Service, University Hospitals of Geneva, Geneva, Switzerland.
5
Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
6
Pediatric Radiology Unit, University Hospitals of Geneva, Geneva, Switzerland.
7
Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.

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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