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February 22, 2010American Journal of Medical Genetics Part A

A known KCNQ1 mutation was absent in 4 of 16 affected family members, demonstrating the presence of an unidentified second genetic locus causing long QT syndrome in this family.

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Population

A large Australian family affected with long QT syndrome (LQTS), including 16 clinically affected members.

Design

Cohort

Key result

A known KCNQ1 mutation was absent in 4 of 16 affected family members, demonstrating the presence of an unidentified second genetic locus causing long QT syndrome in this family.

Authors

KSKim SummersNBNilesh J. BokilFLFoong Teng Lu

Discussion

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Overview

May complicate single-locus assumptions in LQTS genetic testing; extends evidence for multiple causative loci within families.

Study Design

Type

Observational

Structured PICO

P
Population
A large Australian family including 16 clinically affected members with long QT syndrome evaluated for genetic mutations.
E
Exposure
Genetic testing and genome scan
O
Outcome
Identification of genetic mutations segregating with LQTSsurrogate

Demonstrates that multiple genetic loci can cause LQTS within a single family, complicating genetic testing and risk stratification.

Limitations

  • Cannot rule out risk in individuals who are negative for the known mutation in KCNQ1 without knowing the second disease locus.

Cite This Study

Summers et al. (2010) conducted an observational in Long QT syndrome (LQTS). KCNQ1 mutation vs. Absence of KCNQ1 mutation was evaluated on Presence of KCNQ1 mutation and genetic linkage. A known KCNQ1 mutation was absent in 4 of 16 affected family members, demonstrating the presence of an unidentified second genetic locus causing long QT syndrome in this family.

synapsesocial.com/papers/6a7c6208e8dc7ce0bf400bb8https://doi.org/10.1002/ajmg.a.33274
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications2012 · 6 citations
  2. 2Mutation Analysis in Congenital Long QT Syndrome—A Case with Missense Mutations in KCNQ1 and SCN5A2003 · 26 citations
  3. 3Mutation Screening in KCNQ1, HERG, KCNE1, KCNE2 and SCN5A Genes in a Long QT Syndrome Family2007 · 9 citations
  4. 4A Candidate Locus Approach Identifies a Long QT Syndrome Gene Mutation2003 · 5 citations
  5. 5Gene-Targeted Analysis of Clinically Diagnosed Long QT Russian Families2016 · 22 citations