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Fig. 6 | Genome Medicine

Fig. 6

From: Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion

Fig. 6

Genetic and transcriptomic mechanisms for phenotypic variability in 16p12.1 deletion families. Affected children inherit the 16p12.1 deletion (red) and a smaller number of rare “second-hit” variants (green) from a carrier parent, and a larger number of “second-hit” variants from the noncarrier parent (blue). Altered expression of genes due to these “second-hit” variants affects nearby downstream connected genes in an interaction network (grey), causing additional transcriptomic perturbation. Because of this, carrier children have numerous gene expression changes compared with their carrier parents, including genes showing synergistic effects of the deletion and “second-hit” variants (orange), potentially accounting for more severe developmental phenotypes observed in the children

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Genome Medicine

ISSN: 1756-994X

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