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General Information
Name
long QT syndrome 1
FlyBase ID
FBhh0000304
Disease Ontology Term
Parent Disease
Overview

This report describes long QT syndrome 1 (LQT1), a subtype of long QT syndrome; LQT1 exhibits autosomal dominant inheritance. The human gene implicated in this disease is KCNQ1, which encodes potassium voltage-gated channel subfamily Q member 1, a voltage-gated potassium channel required for repolarization phase of the cardiac action potential; there are multiple members of this family in human. There is one fly gene, Dmel\KCNQ, that is orthologous to KCNQ1, as well as to the other members of the "subfamily Q" potassium voltage-gated channel genes in human. Information about fly models for this and related diseases can be found in the report 'cardiac arrhythmias, KCNQ-related' (FBhh0000733).

[updated Feb. 2018 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: long QT syndrome
Symptoms and phenotype

Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the ECG and the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Syncope typically occurs during exercise and high emotions, less frequently at rest or during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal spells. While cardiac events may occur from infancy through middle age, they are most common from the pre-teen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7, OMIM:170390), hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8, OMIM:601005) and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome (OMIM:220400, OMIM:612347). [from GeneReviews, Long QT Syndrome, pubmed:20301308 2016.06.07]

Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999, pubmed:10220144). [From OMIM:192500, 2016.06.07]

Specific Disease Summary: long QT syndrome 1
OMIM report

[LONG QT SYNDROME 1; LQT1](https://omim.org/entry/192500)

Human gene(s) implicated

[POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 1; KCNQ1](https://omim.org/entry/607542)

Symptoms and phenotype

Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999, pubmed:10220144). [From OMIM:192500, 2016.06.07]

Genetics

Long QT syndrome-1 (LQT1) is caused by heterozygous mutation in KCNQ1, the gene encoding the KQT-like voltage-gated potassium channel-1. [From OMIM:192500, 2016.06.07]

Cellular phenotype and pathology
Molecular information

KCNQ1 encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. [provided by RefSeq, Aug 2011]

External links
Disease synonyms
RWS
WRS
Autosomal Dominant Long QT Syndrome
Long QT Syndrome Type 1
Long QT Syndrome without Deafness
LQTS1
Romano-Ward Long QT Syndrome
LQT1
Ward-Romano syndrome
Romano-Ward syndrome
ventricular fibrillation with prolonged QT interval
long QT syndrome 1/2, digenic
LQT1/2, digenic
acquired susceptibility to long QT syndrome 1
long QT syndrome 1; LQT1
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)

    Many to one: 5 human to 1 Drosophila.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Synthetic Gene(s) Used (0)
      Summary of Physical Interactions (0 groups)
      Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
      Genetic Tools, Stocks and Reagents
      Sources of Stocks
      Contact lab of origin for a reagent not available from a public stock center.
      Bloomington Stock Center Disease Page
      Selected mammalian transgenes
      Allele
      Transgene
      Publicly Available Stocks
      Selected Drosophila transgenes
      Allele
      Transgene
      Publicly Available Stocks
      RNAi constructs available
      Allele
      Transgene
      Publicly Available Stocks
      Selected Drosophila classical alleles
      Allele
      Allele class
      Mutagen
      Publicly Available Stocks
      References (3)