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LQT4 Gene: The “Missing” Ankyrin
Table 1.
Summary of Genes Implicated in LQTS and Other Cardiac Arrhythmiasa
| Disease | Locus | Location | Gene | Molecular Mechanism |
|---|---|---|---|---|
| a See review by Wang et al. (1). b See reference (29). c See reference(19). | ||||
| Autosomal dominant | LQT1 | 11p15.5 | KCNQ1 (KvLQT1) (IKs) a cardiac potassium channel subunit gene | Dominant-negative or loss-of-function |
| LQTS | LQT2 | 7q35–36 | KCNH2 (HERG) (IKs) a cardiac potassium channel gene | Dominant-negative or loss-of-function |
| LQT3 | 3q21–24 | SCN5A (INa) cardiac sodium channel gene | Gain-of-function | |
| LQT4 | 4q25–27 | Ankyrin-B (ANK2) adapter protein | Loss-of-function | |
| LQT5 | 21q22 | KCNE1 or MinK (IKs) a cardiac potassium channel subunit gene | Dominant-negative or loss-of-function | |
| LQT6 | 21q22 | KCNE2 (MiRP1) co-assembl with KCNH2 to form IKr | Dominant-negative or loss-of-function | |
| Autosomal recessive | JLN1 | 11p15.5 | KvLQT1 (IKs) a cardiac potassium channel β subunit gene | Dominant-negative or loss-of-function |
| LQTS | JLN2 | 21q22 | KCNE1 or MinK (IKs) a cardiac potassium channel β subunit gene | Dominant-negative or loss-of-function |
| Brugada Syndrome | 3q21–24 | SCN5A (INa) cardiac sodium channel gene | Loss-of-function | |
| Cardiac Conduction | 3q21–24 | SCN5A (INa) cardiac sodium channel gene | Loss-of-function | |
| Disease | ||||
| Catecholamine- | 1q42–43 | RyR2 cardiac ryanodine receptor gene 2 | Unknown | |
| induced VT | 1q13–21 | CASQ2c cardiac SR calsequestrin 2 | ||
| Atrial fibrillationb | 11p15.5 | KVLQT1 (IKs) cardiac potassium channel subunit gene | Gain-of-function | |
| Wolff-Parkinson-White Syndrome | 7q34–36 | PRKAG2 γ2 -regulatory subunit of AMP activated protein kinase | Gain-of-function? | |
| Andersen’s Syndrome | 17q23.1–24.2 | KCNJ2 (Kir2.1) inward rectifier potassium channel | Dominant-negative or loss-of-function | |
