January 1, 2007Human MutationOpen Access

Genotype-phenotype correlations ofKCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome

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Population

23 clinically diagnosed Andersen-Tawil syndrome (ATS) patients from 13 unrelated Japanese families

Design

Case_series

Authors

YHYoshisumi HarunaKitano Hospital AKAtsushi KoboriKobe City Medical Center General Hospital TMTakeru MakiyamaKyoto University

Discussion

Member takes

Implication

Supports KCNJ2 testing in suspected ATS; leaves open generalizability and management implications from this case series.

Structured PICO

Population

23 clinically diagnosed Andersen-Tawil syndrome (ATS) patients from 13 unrelated Japanese families

Intervention

Genetic screening for KCNJ2 mutations and functional assays of novel mutations

Outcome

Genotype-phenotype correlations and functional effects of KCNJ2 mutationssurrogate

KCNJ2 mutations in Japanese ATS patients show high penetrance for characteristic cardiac phenotypes, particularly abnormal U waves and bidirectional ventricular tachycardia, with novel mutations demonstrating dominant negative effects.

Cite This Study

Haruna et al. (2007) studied this question.

synapsesocial.com/papers/6a8a570c331f3ed9ab2e51a2 https://doi.org/10.1002/humu.9483

Topics

Ventricular arrhythmias Echocardiography

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Genotype-phenotype correlations ofKCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Topics

Genotype-phenotype correlations ofKCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Topics

Also Consider