Caroline Demily, Charlyne Duwime, Clémence Lopez, Cherhazad Hemimou, Alice Poisson, Julien Plasse, Matthieu P Robert, Charlotte Dénier, Massimiliano Rossi, Nicolas Franck, Claude Besmond, Giulia Barcia, Nathalie Boddaert, Arnold Munnich, Laurence Vaivre-Douret
ARID1B mutations in Coffin-Siris syndrome are a cause of intellectual disability (0.5-1%), with various degrees of autism and agenesis of the corpus callosum (10%). Little is known regarding the cognitive and motor consequences of ARID1B mutations in humans and no link has been made between corpus callosum anomalies and visuospatial and neuromotor dysfunctions. We have investigated the visuospatial and neuromotor phenotype in eight patients with ARID1B mutations. A paramedian sagittal section of the brain MRI was selected, and corpus callosum was measured in anteroposterior length, genu and trunk width...
December 2019: Psychiatric Genetics