Table 2 Phenotypic characteristics in sporadic patients with rare heterozygous LTBP3 variants in this study
From: Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections
Patient ID | Age (year)/gender | Height(cm)/body weight (kg) | Aortic disease | LTBP3 mutations | Other clinical features | Variants in other HTAAD gene in ClinGen |
|---|---|---|---|---|---|---|
AD721 | 52/M | 172/75 | Type B aortic dissection | c.1456G>A(p.Gly486Arg) | Hypertension; Chest pain; Carotid atherosclerotic plaque | No |
AD820 | 41/M | 171/80 | Type A aortic dissection | c.1588Â A>G(p.Thr530Ala) | Hypertension; Chest pain; Aortic regurgitation; Diabetes | FBN1, c.994Â C>T(p.Arg332Cys) |
AD977 | 48/M | 170/80 | Type B aortic dissection | c.1510G>A(p.Glu504Lys) | Hypertension; Chest pain; Aortic regurgitation | No |
AD2076 | 33/M | 173/95 | Ascending aortic aneurysm and dissection | c.152Â C>G(p.Ala51Gly) | Myopia | No |