Table 1. Clinical features of RAF1 mutation-positive subjects*.
| P1 | P2A‡ | P2B‡ | P3 | P4 | P5 | P6§ | P7 | P8 | P9 | |
|---|---|---|---|---|---|---|---|---|---|---|
| Amino acid change |
p.Pro 332Ala |
p.Leu 603Pro |
p.Leu 603Pro |
p.His 626Arg |
p.Thr 641Met |
p.Leu 603Pro |
p.R254fs | p.Thr 641Met |
p.Ala 237Thr |
p.Thr 310Ala |
| Age, yr | 21 | 40 | 4 | 20 | 15 | 21 | 3 | 21 | 44 | 2 |
| Age of onset, yr |
13 | 24 | 3 | 10 | 7 | 10 | 1 | 16 | 40 | 2 |
| Gender | F | F | M | M | F | F | M | M | M | F |
| Origin | South India | North India | Japan | |||||||
| NYHA III or IV |
YES | YES | YES | YES | YES | YES | YES | YES | YES | YES |
| ST-T change | YES | YES | YES | NO | YES | YES | YES | YES | NA | YES |
| Ventricular arrhythmia |
YES | NO | YES | NO | YES | NO | YES | YES | NO | NO |
| LVIDd, mm | 52 | 55 | 74 | 70 | 72 | 68 | 71 | 65 | 85 | 63 |
| LVEF,% | 31 | 27 | 17 | 22 | 24 | 20 | 18 | 25 | 18 | 12 |
| Mitral regurgitation |
Mod | Mild | Sev | Mod | Mod | Mod | Sev | Mod | Mild | Mod |
*
Clinical features refer to time of presentation. Of note, no person had other features of a RASopathy (facial dysmorphism, short stature, webbed neck, chest deformity or mental retardation)
‡
P2A is the father of P2B (Fig.1C) and
§
P6 is deceased. Abbreviations: LVEF, left ventricular ejection fraction; LVIDd, left ventricular internal diastolic dimension; NYHA, New York Heart Association; Mod, moderate; Sev, severe.