Table 1. Reported cases with ACTC1 gene mutations.
| Familial/de novo | Cardiac Disease | Cardiac rythm | Evolution | Other features | Mutation | ENST00000290378 NM_005159.4 | ENST00000290378 NM_005159.4 | Reference |
|---|---|---|---|---|---|---|---|---|
| Familial (13x) | 12x ASD, 1x VSD, 2x PS, 1x AR, 1x AS, 1x Ebstein | 2x WPW, 1x AF, 1x SB | CHF | 5x midline defects | p.(Met84Thr) | p.(Met84Thr) | c.251T>C | Current study |
| Familial (2x) | 1x ASD, 1x VSD? | - | - | - | 17bp del starting AA 86 | p.(Pro72Hisfs*18) | c.215_231del | Matsson et al. 2008 |
| Familial (18x) | 5x hypertrophied and 3x trabeculated LV apex, 11x HCM, 4x MR, 2x AR | 3x AF, 3x AV block or SB, 2x short PR interval | AF, CHF | - | p.(Glu99Lys) | p.(Glu101Lys) | c.301G>A | Arad M et al. 2005 |
| Familial (94x) | 22x apical HCM, 23x LVNC, 8x ASD, 1x VSD, 3x RCM | 3x AF | 1x CHF, 1x graft, 5x SD | - | p.(Glu99Lys) | p.(Glu101Lys) | c.301G>A | Monserrat L et al. 2007 |
| Familial (9x) | 6x HCM, 2x trabeculated and 5x hypertrophied LV apex, 1x ASD | 1x VT, 2x VF | 2x SD | - | p.(Glu99Lys) | p.(Glu101Lys) | c.301G>A | Olson T al. 2000 |
| Familial (20x) | 20x ASD | - | - | - | p.(Met123Val) | p.(Met125Val) | c.373A>G | Matsson H et al. 2008 |
| de novo (17 mo) | HCM, hypertrophied LV apex | PM | - | - | p.(Pro164Ala) | p.(Pro166Ala) | c.496C>G | Olson et al. 2000. |
| Familial (6x) | 6x ASD | - | - | - | p.(Met178Leu) | p.(Met178Leu) | c.532A>T | Greenway at al. 2014 |
| Familial (3x) | 2x HCM | - | 1x SD | - | p.(Ala232Val) | p.(Ala232Val) | c.695C>T | Van Driest et al. 2003 |
| Familial (18x) | 13x HCM, 5x MR, 2x AR | 1x AF, 1x WPW, 1x VF | 2x DCM | - | p.(Ala295Ser) | p.(Ala297Ser) | c.889G>T | Mogensen et al. 1999 |
| Familial (3x) | 2x RCM, 1x RMC/DCM | - | 1x graftn | - | p.(Asp313His) | p.(Asp313His) | c.937G>C | Kaski et al. 2008 |
| Familial (4x) | 3x DCM | - | - | - | p.(Arg312His) | p.(Arg314His) | c.941G>A | Olson et al. 1998 |
| de novo (8 yo) | HCM, hypertrophied LV apex | VF, IAD | - | - | p.(Ala331Pro) | p.(Ala333Pro) | c.997G>C | Olson et al. 2000 |
| Familial (4x) | 4x DCM | - | - | - | p.(Glu361Gly) | p.(Glu363Gly) | c.1088A>G | Olson et al. 1998 |
In the first column (familial/sporadic), the number of reported cases is notified (for instance: 13x: 13 reported cases). In de novo mutations, the age at diagnosis is stated. Mutation: mutation description as reported in the original article; Columns “ENST00000290378, NM_005159.4”: current description at the protein and DNA levels of the same mutation as in the column “Mutation”. AF: Atrial Fibrillation, AR: Aortic Regurgitation, AS: Aortic Stenosis, ASD: Atrial Septal Defect, AV: Atrioventricular, CHF: Cardiac Heart Failure, DCM: Dilated Cardiomyopathy, HCM: Hypertrophic Cardiomyopathy, IAD: Implantable Automatic Defibrillator, LV: Left Ventricle, LVNC: Left Ventricular Non Compaction, mo: months old, MR: Mitral Regurgitation, PM: Pace Maker, PS: Pulmonary Stenosis, RCM: Restrictive Cardiomyopathy, SB: Sinus Bradycardia, SD: Sudden Death, VF: Ventricular Fibrillation, VSD: Ventricular Septal Defect, VT: Ventricular Tachycardia, WPW: Wolff Parkinson White, yo: years old.