Table 3 Rare variants identified in our cohort and associated nomenclature, classification and database frequency
No | Family | Gene | Nucleotide | Protein | Transcript | Domain | Classification | References | ExAC | ESP |
|---|---|---|---|---|---|---|---|---|---|---|
1 | TAAD032 | FBN1 | c.6740-2A>G | Splice site | NM_000138.4 | cbEGF-like | Causative | This study | 0 | 0 |
2 | TAAD001 | FBN1 | c.7502_7503insA | N2502* | NM_000138.4 | cbEGF-like | Causative | This study | 0 | 0 |
3 | TAAD012 | FBN1 | c.4223G>T | C1408F | NM_000138.4 | cbEGF-like | Causative | Tiecke et al. [22] | 0 | 0 |
4 | TAAD080 | FBN1 | c.7754T>C | I2585T | NM_000138.4 | cbEGF-like | Causative | Liu et al. [48] | 0 | 0 |
5 | TAAD017 | FBN1 | c.5074_5076delAGA | R1692del | NM_000138.4 | – | Causative | Comeglio et al. [29] | 0 | 0 |
6 | TAAD056 | FBN1 | c.7916A>G | Y2639C | NM_000138.4 | cbEGF-like | Causative | Mátyás et al. [34] | 0 | 0 |
7 | TAAD038 | FBN1 | c.2231G>A | G744E | NM_000138.4 | cbEGF-like | Likely causative | This study | 0 | 0 |
8 | TAAD153 | FBN1 | c.2950G>A | V984I | NM_000138.4 | TB5 | Causative | Grau et al. [38] | 0.00005 | 0 |
9 | TAAD118 | TGFBR1 | c.605C>T | A202 V | NM_004612.2 | GS | Likely causative | This study | 0 | 0 |
10 | TAAD026 | TGFBR1 | c.844T>C | Y282H | NM_004612.2 | Protein kinase | Likely causative | This study | 0.00002 | 0 |
11 | TAAD048 | TGFBR2 | c.1579G>A | A527T | NM_003242.5 | Protein kinase | Causative | Frischmeyer-Guerrerio et al. [40] | 0 | 0 |
12 | TAAD146 | SKI | c.59C>A | T20 K | NM_003036.3 | R-SMAD binding | Causative | This study | 0 | 0 |
13 | TAAD045 | SMAD3 | c.868A>T | I290F | NM_005902.3 | MH2 | Likely causative | This study | 0 | 0 |
14 | TAAD111 | ACTA2 | c.80A>G | D27G | NM_001613.2 | Actin family | Likely causative | This study | 0 | 0 |
15 | TAAD076 | ACTA2 | c.350A>G | N117S | NM_001613.2 | Actin family | Likely causative | This study | 0 | 0 |
16 | TAAD024 | MYH11 | c.5273G>A | R1758Q | NP_002465.1 | Coiled coil | Llikely causative | Zhu et al. [12] | 0.0002 | 0.00023 |
17 | TAAD103 | MYH11 | c.5499G>C | E1833D | NM_002474.2 | Coiled coil | Likely causative | This study | 0.0003 | 0.00054 |
18 | TAAD157 | COL3A1 | c.2108C>T | P703L | NM_000090.3 | Triple-helical region | VUS | This study | 0 | 0 |
19 | TAAD097 | COL3A1 | c.3869T>C | I1290T | NM_000090.3 | NC1 | Likely causative | This study | 0 | 0 |
20 | TAAD130 | MYLK | c.608C>T | P203L | NM_053025.3 | Ig-like C2-type 2 | VUS | This study | 0 | 0 |
21 | TAAD027 | MYLK | c.1133G>A | R378H | NM_053025.3 | – | Likely benign | This study | 0.0001382 | 0.00008 |
22 | TAAD048 | MYLK | c.2069C>T | T690 M | NM_053025.3 | Ig-like C2-type 5 | Likely benign | This study | 0.000008 | 0.00008 |