Review Article
Cardiac Ion Channelopathies and the Sudden Infant Death Syndrome
Table 3
Genes linked to short QT syndrome.
| Type | OMIM | Gene | Protein | Functional role in cardiomyocytes | Effect of mutation |
| | | | Autosomal dominant inheritance | |
| SQT1 | #609620 | KCNH2 (HERG) | Kv11.1 | α subunit of channel | Gain of function of | SQT2 | #609621 | KCNQ1 (KVLQT1) | Kv7.1 (KvLQT1) | α subunit of channel | Gain of function of | SQT3 | #609622 | KCNJ2 | Kir2.1 | α subunit of channel | Gain of function of | SQT4 | — | CACNA1C | Cav1.2 | subunit of channel | Loss of function of | SQT5 | — | CACNB2b | Cavβ2b | subunit of channel | Loss of function of | SQT6 | — | CACNA2D1 | Cavα 2δ-1 | α
2δ subunit of channel | Loss of function of |
|
|
OMIM: Online Mendelian Inheritance in Man compendium of human genes and genetic phenotypes; SQT1–SQT6: short QT syndrome types 1–6; : L-type calcium current; : inward rectifier potassium current; : rapid delayed rectifier potassium current; : slow delayed rectifier potassium current.
|