Table 4 Characteristics of FBN-1 variants (n = 57)
From: The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome
Number (Percent) | |
|---|---|
Previously described | 25 (43.9%) |
Previously described and related to MFS | 23 (40.4%) |
De novo | 11 (19.3%) |
Missense | 32 (56.1%) |
Missense with cysteine involvement | 15 (26.3%) |
Nonsense | 13 (22.8%) |
Frameshift | 8 (14.0%) |
Intronic | 4 (7.0%) |
cbEGF-like domain | 38 (66.7%) |
TgfBP domain | 9 (15.8%) |
Pathogenic | 46 (80.7%) |