Table 3.
Variants identified in FBN1 genes.
| Family | Disease | Family History(Y/N) | Nucleotide | Protein | Type | Classification | Reference |
|---|---|---|---|---|---|---|---|
| TAAD001 | AD + AR | N | c.7204+6T > G | — | Splicing | VUS | * |
| TAAD003 | MFS + AD + AR | N | c.1098G > T | p.Trp366Cys | Missense | Likely patho | 25 |
| TAAD005 | MFS + AD + AR | N | c.8123A > G | p.Asn2708Ser | Missense | VUS | 44 |
| TAAD011 | TAA + AR | N | c.1129T > A | p.Cys377Ser | Missense | VUS | * |
| TAAD013 | MFS + TAA + AR | N | c.7471 delA | p.Thr2491ProfsX191 | Frameshift | Likely patho | * |
| TAAD014 | TAA + AR | N | c.1496G > C | p.Cys499Ser | Missense | Likely patho | 27 |
| TAAD017 | AD | N | c.7754T > C | p.Ile2585Thr | Missense | patho | 45 |
| TAAD020 | MFS + TAA + AR | Y | c.4049G > A | p.Cys1350Tyr | Missense | VUS | 46 |
| TAAD021 | TAA + AR | Y | c.5084G > T | p.Cys1695Phe | Missense | VUS | * |
| TAAD023 | MFS + TAA + AR | N | c.7988G > A | p.Cys2663Tyr | Missense | VUS | * |
| TAAD024 | MFS + AD | N | c.8147_8148insA | p.Tyr2716Ter | Frameshift | patho | 18 |
| TAAD026 | AD | N | c.911G > T | p.Cys304Phe | Missense | VUS | * |
| TAAD030 | AD | N | c.5742C > A | p.Cys1914Ter | Nonsense | Likely patho | * |
| TAAD034 | AD | N | c.8069T > G | p.Met2690Arg | Missense | VUS | * |
| TAAD036 | MFS + MR + TR | Y | c.5579G > T | p.Cys1860Phe | Missense | VUS | 46 |
| TAAD038 | MFS + AD + AR | N | c.4454G > A | p.Cys1485Tyr | Missense | Likely patho | 28 |
| TAAD039 | MFS + AD + AR | N | c.2627G > T | p.Cys876Phe | Missense | VUS | * |
| TAAD045 | MFS + TAA + AR | Y | EX5_54 DEL | — | Exon deletion | Likely patho | * |
| TAAD046 | MFS + AD + AR | Y | c.2216G > A | p.Cys739Tyr | Missense | VUS | * |
| TAAD050 | TAA + AR + MR | Y | EX4_53 DEL | — | Exon deletion | Likely patho | * |
| TAAD051 | AD | Y | c.2056G > A | p.Ala686Thr | Missense | VUS | 29 |
| TAAD053 | AD | Y | c.7567A > C | p.Ile2523Leu | Missense | VUS | * |
| TAAD056 | MFS + AR + MR | N | c.247 + 1G > A | — | Splicing | patho | 47 |
| TAAD068 | MFS + TAA + AR | Y | c.4292G > A | p.Cys1431Tyr | Missense | Likely patho | 32 |
| TAAD069 | MFS + AR + MR | Y | c.8292_8293insT | p.Phe2764PhefsX10 | Frameshift | Likely patho | * |
| TAAD070 | MFS + TAA + AR | Y | c.6801C > A | p.Asn2267Lys | Missense | VUS | 18 |
*This study.
The underline patients were with concomitant mutations in different genes.
AD: aortic dissection; AR: aortic regurgitation; MFS: Marfan syndrome; MR: mitral regurgitation; TAA: thoracic aortic aneurysm; TR: tricuspid regurgitation; Patho: pathogenic; VUS: variants of uncertain significance.