Table 1 Genotype–phenotype correlations reported in the literature until the end of 2020
Authors | Year of publication | Number of patients compared | Compared genetic variants |
|---|---|---|---|
A: No difference in terms aortic severity | |||
Loeys et al. [71] | 2004 | 85 | PTC and Cys substitutions |
Arbustini et al. [73] | 2005 | 81 | PTC and missense Cys |
Comeglio et al. [72] | 2007 | 174 | PTC and missense Cys |
Faivre et al. [61] | 2007 | 803 | all mutations apart from Cys elimination and Cys introduction |
Pees et al. [74] | 2014 | 49 | PTC and missense |
B: Non-significant difference found in aortic severity | |||
Schrijver et al. [60] | 2002 | 104 | PTC > Cys substitution |
Rommel et al. [70] | 2005 | 76 | PTC > Cys substitution |
Hernándiz et al. [79] | 2020 | 61 | DN Cys > DN non-Cys HI > DN |
C: Significant difference found in aortic severity | |||
Faivre et al. [61] | 2007 | 803 | missense eliminating Cys > missense introducing Cys |
Wang et al. [75] | 2013 | 39 | PTC or splicing > missense missense non-Cys > missense Cys |
Baudhuin et al. [69] | 2015 | 179 | truncating or splicing > missense |
Franken et al. [77] | 2016 | 357 | HI > DN |
Franken et al. [63] | 2017 | 290 | HI > DN |
Becerra-muñoz et al. [62] | 2018 | 90 | Truncating > missense |
Takeda et al. [8] | 2018 | 248 | HI > DN DN-CD + HI > DN-nonCD |
Stark et al. [81] | 2020 | 105 | missense Cys > missense non-Cys |
Stengl et al. [80] | 2020 | 78 | DN Cys > DN non-Cys DN Cys + HI > DN non-Cys DN Cys > HI |
Xu et al. [78] | 2020 | 180 | frameshift and nonsense > missense |
Arnaud et al. [82] | 2021 | 1575 | PTC > in-frame -Cys > other missense |