Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Short QT syndrome 2

Short QT syndrome 2 is an autosomal dominant disorder caused by a missense mutations of the KCNQ1 gene at codon position 307.

Systematic

Short QT syndrome
Short QT syndrome 1
Short QT syndrome 2
KCNQ1
Short QT syndrome 3

References:

1.

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

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2.

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

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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.

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4.

OMIM.ORG article

Omim 609621 [^]
Update: April 29, 2019