is a gene important for the central nervous system development-in particular for the process of neuronal migration, axonal fasciculation, and synaptogenesis-and colocalizes and cooperates in neurons with gene. Alterations of have been linked to neurodevelopmental disorders, ranging from developmental delay, to autism spectrum disorder, to attention deficit/hyperactivity disorder. The underlying mechanism is not yet fully understood, as it has been hypothesized a fully dominant effect, a risk factor role of partially penetrating variants, and a recessive inheritance pattern. We report a novel and de novo mutation in a child affected by severe neurodevelopmental disorder and with brain magnetic resonance imaging evidence of mega cisterna magna and mild cerebellar hypoplasia. This case strengthens the hypothesis that dominant variants may lead to neurodevelopmental disruption; furthermore, given the strong interaction between and , we discuss as posterior fossa anomalies may also be part of the phenotype of -related syndrome.Thieme. All rights reserved.
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