Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Short QT syndrome 3

Short QT syndrome 3 is an autosomal dominant disorder caused by a missense mutations of the KCNJ2 gene at codon position 172.

Systematic

Short QT syndrome
Short QT syndrome 1
Short QT syndrome 2
Short QT syndrome 3
KCNJ2

References:

1.

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

[^]
2.

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

[^]
3.

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.

[^]
Update: Sept. 26, 2018