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ARID1B Haploinsufficiency Reveals Early Divergent Neuroanatomical Phenotypes through Development and Sex

Poster Presentation

Friday, May 3, 2019: 11:30 AM-1:30 PM

Room: 710 (Palais des congres de Montreal)

A. Kinman1, L. R. Qiu2, D. Fernandes1, Z. Lindenmaier1, S. Petkova 3, J. Ellegood2, J. L. Silverman 4and J. P. Lerch2, (1)Mouse Imaging Centre, Neuroscience and Mental Health, Hospital for Sick Children, Toronto, ON, Canada, (2)Mouse Imaging Centre, Hospital for Sick Children, Toronto, ON, Canada, (3)MIND Institute and Department of Psychiatry and Behavioral Sciences, Sacramento, CA, (4)MIND Institute and Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, Sacramento, CA

Background: 

Haploinsufficiency of ARID1B, the chromatin remodelling AT-Rich Interactive Gene 1B, has been implicated in autism spectrum disorder (ASD), intellectual disability and Coffin-Siris syndrome (O’Roak et al., 2012; Fitzgerald et al. 2015; Celen et al., 2017). Although ARID1B haploinsufficiency is implicated in multiple neuropsychiatric disorders, little is known about its effect on neuroanatomical development.

Objectives: 

This study explores the structural neuroimaging phenotypes associated with the ARID1B mutation using in vivo magnetic resonance imaging (MRI) in mice. Our aim is to elucidate any developmental and sex differences in neuroanatomical phenotypes associated with haploinsufficiency of ARID1B.