Mutation spectrum for 153 HHT families
| Mutation type | ENG (%) | ACVRL1 (%) | MADH4 (%) | All (%) | Methods* |
|---|---|---|---|---|---|
| *Methods used for mutation detection: S = sequencing; Q = quantitative multiplex polymerase chain reaction. | |||||
| Missense | 25 (27) | 36 (62) | 3 (100) | 64 (41) | S |
| Nonsense | 14 (15) | 9 (15) | 0 | 23 (15) | S |
| Splice | 12 (13) | 1 (2) | 0 | 13 (8) | S |
| Small deletions | 22 (23) | 4 (7) | 0 | 26 (17) | S, Q |
| Small insertions | 12 (13) | 3 (5) | 0 | 15 (10) | S, Q |
| Indels | 2 (2) | 1 (2) | 0 | 3 (2) | S, Q |
| Whole exon and multiexon deletions and duplications | 7 (7) | 4 (7) | 0 | 11 (7) | Q |
| Total | 94 (100) | 58 (100) | 3 (100) | 155 (100) | |