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Journal Article

Lessons learnt from neuroimaging studies of copy number variants, a systematic review


Draganski,  Bogdan
Laboratoire de Recherche en Neuroimagerie (LREN), Centre hospitalier universitaire vaudois, Lausanne, Switzerland;
Department Neurology, MPI for Human Cognitive and Brain Sciences, Max Planck Society;

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Modenato, C., Martin-Brevet, S., Moreau, C. A., Rodriguez-Herreros, B., Kumar, K., Draganski, B., et al. (2021). Lessons learnt from neuroimaging studies of copy number variants, a systematic review. Biological Psychiatry, 90(9), 596-610. doi:10.1016/j.biopsych.2021.05.028.

Pathogenic Copy Number Variants (CNVs) and aneuploidies alter gene dosage and are associated with neurodevelopmental psychiatric disorders (NPDs) such as autism spectrum disorder or schizophrenia.

Brain mechanisms mediating genetic risk for NPDs remain largely unknown, but there is a rapid increase in morphometry studies of CNVs using T1-weighted structural MRI. Studies have been conducted one mutation at a time, leaving the field with a complex catalog of brain alterations linked to different genomic loci.

Our aim was to provide a systematic review of neuroimaging phenotypes across CNVs associated with developmental psychiatric disorders including autism and schizophrenia. We included 76 structural MRI studies on 20 CNVs at the15q11.2, 22q11.2, 1q21.1 distal, 16p11.2 distal and proximal, 7q11.23, 15q11-q13, and 22q13.33 (SHANK3) genomic loci as well as aneuploidies of chromosome X, Y and 21.

Moderate to large effect sizes on global and regional brain morphometry are observed across all genomic loci, which is in line with levels of symptom severity reported for these variants. This is in stark contrast with the much milder neuroimaging effects observed in idiopathic psychiatric disorders. Data also suggests that CNVs have independent effects on global versus regional measures as well as on cortical surface versus thickness.

Findings highlight a broad diversity of regional morphometry patterns across genomic loci. This heterogeneity of brain patterns provides insight into the weak effects reported in MRI studies of cognitive dimension and psychiatric conditions. Neuroimaging studies across many more variants will be required to understand links between gene function and brain morphometry.