Table 1 Breakdown of identified mutations of the probands
From: Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia
| Â | ENG | ACVRL1 | SMAD4 | Not identified |
|---|---|---|---|---|
Number of probands with pathogenic variants | 80 | 59 | 0 | 11 |
Sex (male/female) | 46/34 | 23/36 | 0 | 4/7 |
Novel variants | 20 | 9 | 0 | Â |
De novo variants | 3 (3.8%) | 1 (1.7%) | Â | Â |
Variant types | ||||
 Missense | 23 (28.8%) | 38 (64.4%) | 0 (0%) |  |
 Nonsense/frameshift | 28 (35.0%) | 18 (30.5%) | 0 (0%) |  |
 Splice site | 20 (25.0%) | 3 (5.1%) | 0 (0%) |  |
 Large deletion | 5 (6.3%) | 0 (0%) | 0 (0%) |  |
 In-frame deletion of 12–18 bp | 3 (3.8%) |  |  |  |
 5'-UTR | 1 (1.3%) |  |  |  |