Genetic basis and pathogenesis of Familial WPW Syndrome
2003
Genetic Basis of Familial Wolff-Parkinson-White Syndrome
publication
Evidence: moderate
Author Information
Author(s): Sidhu Jasvinder MD, Roberts Robert MD
Primary Institution: Baylor College of Medicine
Hypothesis
The study investigates the genetic mutations responsible for familial Wolff-Parkinson-White syndrome.
Conclusion
The gene PRKAG2, which encodes for a protein involved in energy regulation, is identified as the cause of familial Wolff-Parkinson-White syndrome.
Supporting Evidence
- The gene PRKAG2 was identified as the causal gene for familial WPW syndrome.
- Missense mutations in PRKAG2 were found in families with WPW.
- Familial WPW syndrome has an autosomal dominant mode of inheritance.
Takeaway
Some families have a heart condition called Wolff-Parkinson-White syndrome because of a gene change that affects how their heart works.
Methodology
Genetic linkage analysis followed by candidate gene approach to identify mutations in the PRKAG2 gene.
Participant Demographics
Familial cases of WPW syndrome were studied, particularly in a large French-Canadian family.
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