Genetic risk for schizophrenia and developmental delay is associated with shape and microstructure of midline white-matter structures

Translational Psychiatry
Mark DrakesmithDavid E J Linden

Abstract

Genomic copy number variants (CNVs) are amongst the most highly penetrant genetic risk factors for neuropsychiatric disorders. The scarcity of carriers of individual CNVs and their phenotypical heterogeneity limits investigations of the associated neural mechanisms and endophenotypes. We applied a novel design based on CNV penetrance for schizophrenia (Sz) and developmental delay (DD) that allows us to identify structural sequelae that are most relevant to neuropsychiatric disorders. Our focus on brain structural abnormalities was based on the hypothesis that convergent mechanisms contributing to neurodevelopmental disorders would likely manifest in the macro- and microstructure of white matter and cortical and subcortical grey matter. Twenty one adult participants carrying neuropsychiatric risk CNVs (including those located at 22q11.2, 15q11.2, 1q21.1, 16p11.2 and 17q12) and 15 age- and gender-matched controls underwent T1-weighted structural, diffusion and relaxometry MRI. The macro- and microstructural properties of the cingulum bundles were associated with penetrance for both developmental delay and schizophrenia, in particular curvature along the anterior-posterior axis (Sz: pcorr = 0.026; DD: pcorr = 0.035) and intracellu...Continue Reading

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Citations

Jun 4, 2020·Molecular Autism·Danijela DrakulicAdrian J Harwood
Feb 6, 2021·Translational Psychiatry·Stefanie C LindenMarianne B M van den Bree
Feb 23, 2021·Human Brain Mapping·Ida E SønderbyUNKNOWN ENIGMA 22q11.2 Deletion Syndrome Working Group
Apr 4, 2021·Current Opinion in Genetics & Development·Clara A MoreauCarrie E Bearden
Aug 20, 2020·Journal of Neuroscience Methods·Kouhei KamiyaShigeki Aoki
Jun 3, 2021·International Journal of Molecular Sciences·Joy Yoon, Yingwei Mao
Mar 12, 2021·Brain : a Journal of Neurology·Clara A MoreauSebastien Jacquemont

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Methods Mentioned

BETA
PCA

Software Mentioned

Freesurfer
Elastix
Illumina Genome Studio
MATLAB code
FSL
RESDORE
NODDI
PennCNV
FAST

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