Table 1.
Genes linked to long QT syndrome.
| Type | OMIM | Gene | Protein | Functional role in cardiomyocytes | Effect of mutation |
|---|---|---|---|---|---|
| Autosomal dominant inheritance | |||||
|
| |||||
| LQT1 | #192500 | KCNQ1 (KVLQT1) | Kv7.1 (KvLQT1) | α subunit of I Ks channel | Loss of function of I Ks |
| LQT2 | #613688 | KCNH2 (HERG) | Kv11.1 | α subunit of I Kr channel | Loss of function of I Kr |
| LQT3 | #603830 | SCN5A | Nav1.5 | α subunit of I Na channel | Gain of function of I Na |
| LQT4 | #600919 | ANK2 | Ankyrin-B | Anchoring protein | Loss of function of multiple ion channels and transporters |
| LQT5 | #613695 | KCNE1 | KCNE1 (minK) | β subunit of I Ks channel | Loss of function of I Ks |
| LQT6 | #613693 | KCNE2 | KCNE2 (MiRP1) | β subunit of I Kr channel | Loss of function of I Kr |
| LQT7‡ | #170390 | KCNJ2 | Kir2.1 | α subunit of I K1 channel | Loss of function of I K1 |
| LQT8† | #601005 | CACNA1C | Cav1.2 | α 1C subunit of I Ca,L channel | Gain of function of I Ca,L |
| LQT9 | #611818 | CAV3 | Caveolin-3 | Caveolar coating | Gain of function of I Na |
| LQT10 | #611819 | SCN4B | Nav β4 | β subunit of I Na channel | Gain of function of I Na |
| LQT11 | #611820 | AKAP9 | Yotiao | Anchoring protein for PKA regulatory subunit | Loss of function of I Ks |
| LQT12 | #612955 | SNTA1 | α 1-syntrophin | Scaffolding protein | Gain of function of I Na |
| LQT13 | #613485 | KCNJ5 | Kir3.4 | α subunit of I K,ACh channel | Loss of function of I K,ACh |
|
| |||||
| Autosomal recessive inheritance | |||||
|
| |||||
| JLN1 | #220400 | KCNQ1 (KVLQT1) | Kv7.1 (KvLQT1) | α subunit of I Ks channel | Loss of function of I Ks |
| JLN2 | #612347 | KCNE1 | KCNE1 (minK) | β subunit of I Ks channel | Loss of function of I Ks |
OMIM: Online Mendelian Inheritance in Man compendium of human genes and genetic phenotypes; LQT1– LQT13: long QT syndrome types 1–13; JLN1 and JLN2: Jervell and Lange-Nielsen syndrome types 1 and 2; I Ca,L: L-type calcium current; I K,ACh: acetylcholine-sensitive potassium current; I K1: inward rectifier potassium current; I Kr: rapid delayed rectifier potassium current; I Ks: slow delayed rectifier potassium current; I Na: fast sodium current.
‡Also known as Andersen's syndrome or Andersen-Tawil syndrome
†Also known as Timothy syndrome.