A Candidate Locus Approach Identifies a Long QT Syndrome Gene Mutation

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Population

15 family members representing 4 generations of a family affected by Long QT syndrome, including 7…

Design

Case_series

Authors

Discussion

Supports KCNQ1 G502A segregation in this LQTS family; leaves open broader validation before clinical use.

Population

15 family members representing 4 generations of a family affected by Long QT syndrome, including 7 individuals with prolonged QT intervals

Intervention

Candidate locus approach using polymorphic short tandem repeat markers and PCR amplification of the KCNQ1 coding region

Outcome

Identification of the genetic mutation causing Long QT syndromesurrogate

A candidate locus approach successfully identified a specific KCNQ1 mutation (G502A) responsible for Long QT syndrome in an affected family.

Beery et al. (2003) studied this question.

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