Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Short QT syndrome 2 is an autosomal dominant disorder caused by a missense mutations of the KCNQ1 gene at codon position 307.
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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
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