Open AccessMCF2 is linked to a complex perisylvian syndrome and affects cortical lamination
Author(s) -
MolinardChenu Aude,
Fluss Joël,
Laurent Sacha,
Laurent Méryle,
Guipponi Michel,
Dayer Alexandre G.
Publication year - 2020
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.50949
Subject(s) - corticogenesis , neuroscience , embryonic stem cell , electroporation , missense mutation , medicine , in utero , maldevelopment , mutation , pathology , gene , biology , anatomy , genetics , pregnancy , fetus
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.