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.

中文翻译：

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MCF2与复杂的Persylvian综合征相关，并影响皮层结构。

先天性双侧周围神经综合征（CBPS）与下运动神经元功能障碍的结合仍然不常见，并提示潜在的常见遗传损伤会影响基本的神经发育过程。在这里，我们确定在假定的致病性错义突变MCF2与CBPS一个男孩的基因。使用子宫内电穿孔在皮质发生过程中遗传操纵皮质神经元，我们证明了小鼠Mcf2基因控制皮质投射神经元的胚胎迁移。引人注目的是，我们发现CBPS相关MCF2突变也妨碍皮质层定位，支持这一假设在胚胎神经细胞迁移的过程中改变可导致CBPS的罕见病例。