Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Short-QT-Syndrom 1

Das Short-QT-Syndrom 1 ist eine autosomal dominante Erkrankung die durch eine Missense-Mutationen an der Codonposition 588 des KCNH2-Gens ausgelöst wird.

Gliederung

Short-QT-Syndrom
Short-QT-Syndrom 1
KCNH2
Short-QT-Syndrom 2
Short-QT-Syndrom 3

Referenzen:

1.

Gussak I et. al. (2000) Idiopathic short QT interval: a new clinical syndrome?

[^]
2.

Gaita F et. al. (2003) Short QT Syndrome: a familial cause of sudden death.

[^]
3.

Brugada R et. al. (2004) Sudden death associated with short-QT syndrome linked to mutations in HERG.

[^]
4.

Hong K et. al. (2005) Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.

[^]
5.

Priori SG et. al. (2005) A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene.

[^]
6.

Bellocq C et. al. (2004) Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.

[^]
7.

Gouas L et. al. (2005) Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.

[^]
8.

Schimpf R et. al. (2005) Short QT syndrome.

[^]
9.

Moreno C et. al. (2015) A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome.

[^]