Fig. 2. Kaplan–Meier estimated probabilities of the impact of a variant in the neonatal region (exons 24 to 32) vs. a variant located elsewhere in the FBN1 gene on aortic risk (dissection or surgery) according to age.

Comparison of variants located within the neonatal region (red) or elsewhere (blue) in the gene. Left panel: premature termination codon (PTC) (top), in-frame variants (bottom). Right panel: patients with in-frame pathogenic variants associated with (top) cysteine loss (-Cys), (middle) addition (+Cys), (bottom) no fibrillin-1 protein cysteine content change (noCys).