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. | Genetics in Medicine

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.

From: Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants

Fig. 2

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).

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