Fig. 1: Eight key CNVs lead to unique effects on brain asymmetry that spotlight the planum temporale.
From: Using rare genetic mutations to revisit structural brain asymmetry

We probed the effects of eight CNVs on brain asymmetry (deletions and duplications at 1q21.1 distal, 15q11.2 BP1-BP2, 16p11.2 proximal, 22q11.2 proximal loci). For that purpose, we estimated eight LDA models encompassing multivariate prediction rules separating respective CNV carriers and healthy controls in terms of regional left-right deviations. a Significant LDA coefficients across eight key CNVs. The sankey plot depicts all LDA coefficients surpassing the bootstrap significance test. The width of the ribbon corresponds to the coefficient magnitude. Planum temporale and fusiform cortex asymmetries are both significantly associated with three CNVs. b Overall strongest coefficients across eight LDA models. The boxplots depict LDA coefficients across the 8 CNVs (the box extends from the first quartile to the third quartile and the whiskers extend to the 1.5x the inter-quartile range). Lighter symbols represent deletions, while darker symbols represent duplications. Star denotes a significant coefficient based on the bootstrap significance test. c Detailing the effects on planum temporale. Rain cloud plots summarize the effects of each CNV on the asymmetry of planum temporale. The y-axis shows raw asymmetry indices (no LDA model), z-scored using control participants. While the 15q11.2 duplication, 16p11.2 deletion, and 22q11.2 deletion increase the asymmetry, 1q21.1 deletion decreases the asymmetry. The color (blue – decrease, red – increase) depicts a significant change in mean asymmetry based on a two-sided t-test with FDR-corrected P < 0.05. d Comparison of brain-wide asymmetry patterns. We calculated Pearson’s correlation to quantify the similarity between every pair of LDA coefficient sets (vectors) from the eight models. Asterisk denotes FDR-corrected P-values obtained from spin permutation. Hierarchical clustering of model-specific coefficients obtained per CNV display distances (similarities) among studied asymmetry patterns based on Ward’s method. Distinct clusters separating deletions and duplications provide further evidence of their opposing effects. e Regions separating different CNVs. Region-wise coefficients are plotted along the two leading components of the multiclass LDA model designed to separate between the eight CNVs. CNVs lead to distinct brain asymmetry patterns in which the planum temporale plays a prominent role.