Top ▲

Short QT syndrome 2; SQT2

Disease ID:854
Name:Short QT syndrome 2; SQT2
Associated with:1 target
Familial short QT syndrome
Database Links
OMIM: 609621
Orphanet: ORPHA51083


Role:  Gain of function mutations in KCNQ1 shortens action potentials, leading to shortened QT interval, sinus bradycardia and cardiac arrhythmia
References:  1,3
Mutations:  Kv7.1 is associated with 3 mutation. Click here for details


No ligand related data available for Short QT syndrome 2; SQT2


Show »

1. Bellocq C, van Ginneken AC, Bezzina CR, Alders M, Escande D, Mannens MM, BarĂ³ I, Wilde AA. (2004) Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation, 109 (20): 2394-7. [PMID:15159330]

2. Chen YH, Xu SJ, Bendahhou S, Wang XL, Wang Y, Xu WY, Jin HW, Sun H, Su XY, Zhuang QN, Yang YQ, Li YB, Liu Y, Xu HJ, Li XF, Ma N, Mou CP, Chen Z, Barhanin J, Huang W. (2003) KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science, 299 (5604): 251-4. [PMID:12522251]

3. Hong K, Piper DR, Diaz-Valdecantos A, Brugada J, Oliva A, Burashnikov E, Santos-de-Soto J, Grueso-Montero J, Diaz-Enfante E, Brugada P, Sachse F, Sanguinetti MC, Brugada R. (2005) De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero. Cardiovasc. Res., 68 (3): 433-40. [PMID:16109388]