Post-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia.

摘要: Cytoplasmic Actin Gamma 1 (ACTG1) gene variant are autosomal dominant and can cause CNS anomalies (Baraitser Winter Malformation Syndrome; BWMS). ACTG1 in offspring include agenesis of the corpus callosum (ACC) neuronal heterotopia which ectopic nodules nerve cells that failed to migrate appropriately. Subcortical periventricular have been described previously association with ACC. In this case report, we investigated a neonatal brain an phenotype ACC, (ACC-H) was diagnosed on antenatal MR imaging consistent band seen post-mortem images. Histologically clusters neurons were both subcortical white matter (PVWM) region coincided impaired abnormalities glial formation. Immunohistochemistry performed paraffin-embedded tissue blocks from age-matched control. Using sections frontal lobe, examined distribution (HuC/HuD, calretinin, parvalbumin), growth cone (drebrin), synaptic proteins (synaptophysin SNAP-25). Additionally, how altered astroglia (nestin, GFAP, vimentin); oligodendroglia (OLIG2) microglia (Iba-1) callosum, cortex, caudal ganglionic eminence, PVWM. As predicted case, found lack midline radial glia glutamatergic fibers. We also disturbances cortical region, extracellular matrix components variant. The eminence PVWM regions lacked several cellular identified control case. Within heterotopia, evidence GABAergic apparent connections. data presented study BWMS variants provides insight as composition important migratory signals may dramatically affect ongoing development.