Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Short QT syndrome 1

Short QT syndrome 1 is an autosomal dominant disorder caused by a missense mutations of the KCNH2 gene at codon position 588.

Systematic

Short QT syndrome
Short QT syndrome 1
KCNH2
Short QT syndrome 2
Short QT syndrome 3

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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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.

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Update: Sept. 26, 2018