Observational Cohort Study of Ventricular Arrhythmia in Adults with Marfan Syndrome Caused by FBN1 Mutations
Figure 1
According to the revised Ghent nosology [17] we identified disease causality for 80 FBN1 mutations, as missense mutations affecting/creating cysteine residues in 25 (30%), nonsense mutations in 15 (19%), inframe and out of frame deletion/insertions in 14 (18%), missense mutations affecting conserved residues of the EGF consensus sequence in 9 (11%), other missense mutations in 9 (11%), splice site mutations in 6 (8%), and missense mutations creating cysteine residues in a EGF consensus sequence in 2 (3%) [17].