Figure 5. LMNA mutations can be pleiotropic, sometimes causing overlapping phenotypes, disparate individual phenotypes, or both.

A) Heatmap displaying mutations leading to overlap syndromes (multiple organ system involvement in the same individual), with the relative involvement of each organ system/phenotype. Hierarchical clustering was performed on the mutations, demonstrating 6 distinct clusters, which are labeled. B) Heatmap depicting mutations leading to multiple, disparate syndromes (distinct organ involvement in different individuals), with the relative involvement of each organ system/phenotype. Hierarchical clustering was performed on the mutations, demonstrating 4 distinct clusters, which are labeled. C) Heatmap depicting mutations found in both (A) and (B), representing mutations that can lead to overlapping and multiple disparate phenotypes, with relative involvement of each organ system.