November 15, 2012European Heart JournalOpen Access

Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada

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Population

198 arrhythmogenic right ventricular cardiomyopathy/dysplasia probands

Comparison

Bidirectional sequencing of the TMEM43 gene vs 378 control subjects

Design

Case-control

Authors

AHAnnika HaywoodKing Abdullah University of Science and Technology NMNancy D. MernerAuburn University KHKathy HodgkinsonMemorial University of Newfoundland

Discussion

Member takes

Implication

p.R312W supports reclassification as pathogenic ARVC founder variant; leaves open targeted screening recommendations pending larger validation studies.

Structured PICO

Population

198 arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) probands (143 from the UK, 55 from Newfoundland, Canada)

Intervention

Bidirectional sequencing of the TMEM43 gene

Comparator

378 control subjects

Outcome

Identification of pathogenic TMEM43 variantssurrogate

The p.R312W variant in the TMEM43 gene is a pathogenic founder mutation causing arrhythmogenic right ventricular cardiomyopathy in UK and Canadian populations.

Cite This Study

Haywood et al. (2012) studied this question.

synapsesocial.com/papers/6a7ddcf9da6d5413e2cb5c02 https://doi.org/10.1093/eurheartj/ehs383

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Implication

p.R312W supports reclassification as pathogenic ARVC founder variant; leaves open targeted screening recommendations pending larger validation studies.

Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider