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. Spearman’s rank order coefficients were used to explore correlations between visuospatial and social cognitive variables and dimensions of the corpus callosum. A significant correlation between genu width size and visual cognition was observed. Retrocerebellar cysts were associated with corpus callosum anomalies. Here, we show that corpus callosum anomalies caused in ARID1B mutations may be predictive of the visuospatial and motor phenotype in Coffin–Siris syndrome.
aReference Center for Rare Diseases with Psychiatric Phenotype-GénoPsy, le Vinatier Hospital and Marc Jeannerod Institute, Bron
bFondation l’Elan Retrouvé et Institut Imagine
cFaculty of Medicine, University of Paris Descartes (SPC); INSERM UMR 1178/1018-CESP, University of Paris Sud-Paris Saclay, UVSQ Villejuif and Paris Descartes, SPC; Necker-Enfants-Malades University Hospital, APHP, Paris
dPsychosocial Rehabilitation and Cognitive Remediation Ressource Center (CRR and SUR-CL3R), le Vinatier Hospital and Marc Jeannerod Institute (CNRS UMR 5229 and Claude Bernard Lyon 1 University), Bron
eNecker-Enfants Malades Hospital, Paris
fGenetic Department, Hospices Civils de Lyon, and INSERM U1028, CNRS UMR 5292, Lyon Neuroscience Research Center, GENDEV Team, Claude Bernard Lyon 1 University, Bron
gInserm UMR1163, Génétique Translationnelle, Institut Imagine, Paris
hGenetics Department, INSERM UMR 1163, Necker Hospital, Paris-Descartes University, Paris
iPediatric Radiology Department, Hôpital Necker Enfants Malades, AP-HP, University René Descartes, PRES Sorbonne Paris Cité, INSERM UMR 1163, Institut Imagine, and INSERM U1000, Paris, France
Received 6 January 2019 Accepted 19 March 2019
C.D. designed the study, collected the data and wrote the first draft of the manuscript. A.M. revised the manuscript critically for important intellectual content. L.V.-D. supervised the clinical data collection. N.B. supervised brain MRI data collection. Others authors collected clinical data. All authors approved the final version of the manuscript and gave their agreement to be accountable for all aspects of the work.
Correspondence to Caroline Demily, MD, PhD, Centre Hospitalier le Vinatier Centre de référence GénoPsy, 95 boulevard Pinel, 69677 Bron cedex, France, Tel: +33437915163; fax: +33437915263; e-mail: Caroline.firstname.lastname@example.org