Table 2.
Spectrum of Genes Identified in SUNDS
| Gene | Locus | Protein | Current | Associated Disease |
|---|---|---|---|---|
| Na+ channels | ||||
| SCN5A | 3p22.2 | Sodium voltage‐gated channel α‐subunit 5 (Nav1.5) | INa | BrS |
| SCN1B | 19q13.11 | Sodium voltage‐gated channel β‐subunit 1 | INa | BrS |
| SCN3B | 11q24.1 | Sodium voltage‐gated channel β‐subunit 3 | INa | BrS |
| SCN10A | 3p22.2 | Sodium voltage‐gated channel α‐subunit 10 (Nav1.8) | INa | BrS |
| K+ channels | ||||
| KCNQ1 | 11p15.4‐15.5 | Potassium voltage‐gated channel subfamily Q member 1 (Kv7.1) | IKs | LQTS |
| KCNH2 | 7q36.1 | Potassium voltage‐gated channel subfamily H member 2 (Kv11.1) | IKr | LQTS |
| KCNE1 | 21q22.12 | Potassium voltage‐gated channel subfamily E regulatory subunit 1 (mink) | IKs | LQTS |
| KCNE2 | 21q22.11 | Potassium voltage‐gated channel subfamily E regulatory subunit 1 (MiRP1) | IKr | LQTS |
| KCNJ5 | 11q24.3 | Potassium voltage‐gated channel subfamily J member 5 (Kir3.4) | IKACh | LQTS |
| Ca2+ channels | ||||
| CACNA1C | 12p13.33 | Calcium voltage‐gated channel subunit α1 C (CaV1.2) | ICa,L | LQTS |
| CACNB2 | 10p12.31‐12.33 | Calcium voltage‐gated channel auxiliary subunit β‐2 | ICa,L | LQTS |
| RyR2 | 1q43 | Ryanodine receptor 2 | Ca2+ release | CPVT, ARVC |
| Connexome | ||||
| PKP2 | 12p11.21 | Plakophilin 2 | INa | ARVC |
| DSP | 6p24.3 | Desmoplakin | NA | ARVC |
| GJA1 | 6q22.31 | Gap junction protein α 1/Connexin 43 | NA | HLHS |
| VCL | 10q22.2 | Vinculin | INa | DCM, HCM |
| Other genes | ||||
| LRRC10 | 12q15 | Leucine‐rich repeat containing 10 | NA | DCM |
| ABCC9 | 12p12.1 | ATP binding cassette subfamily C member 9 | NA | AF |
| ACTN2 | 1q43 | α2‐Actinin | INa | DCM |
| AKAP9 | 7q21.2 | A‐kinase anchoring protein 9 | NA | LQTS |
| ANKRD | 10q23.31 | Ankyrin repeat domain | NA | DCM |
| DMPK | 19q13.32 | DM1 protein kinase | NA | LVNC |
| EYA4 | 6q23.2 | EYA transcriptional coactivator and phosphatase 4 | NA | DCM |
| GATA4 | 8p23.1 | GATA binding protein 4 | NA | AF |
| JUP | 17q21.2 | Junction plakoglobin | NA | ARVC |
| LDB3 | 10q23.2 | LIM domain‐binding protein 3 | NA | DCM, LVNC |
| LMNA | 1q22 | Lamin A/C | NA | DCM |
| MYBPC3 | 11p11.2 | Myosin‐binding protein C, cardiac‐type | NA | HCM, DCM, LVNC |
| MYH6 | 14q11.2 | Myosin 6 | NA | DCM, HCM |
| MYH7 | 14q11.2 | Myosin heavy chain 7 | NA | DCM, HCM, RCM |
| NUP155 | 5p13.2 | Nucleoporin 155 | NA | AF |
| SGCD | 5q33.2‐33.3 | Sarcoglycan delta | NA | DCM |
| TNNT2 | 1q32.1 | Troponin T2, cardiac type | NA | DCM |
AF indicates atrial fibrillation; ARVC, arrhythmogenic right ventricular cardiomyopathy; BrS, Brugada syndrome; CPVT, catecholaminergic polymorphic ventricular tachycardia; DCM, dilated cardiomyopathy; HCM, hypertrophic cardiomyopathy; HLHS, hypoplastic left heart syndrome; LQTS, long QT syndrome; LVNC, left ventricular noncompaction; NA, not available; SUNDS, sudden unexplained nocturnal death syndrome.