Key result
Andersen-Tawil syndrome manifests as a highly variable channelopathy primarily driven by KCNJ2 mutations.
Why the study?
Andersen-Tawil syndrome exhibits high penetrance but remarkable variability in disease expression and severity, with genetic causes unknown in nearly 40% of cases.
Population
Patients with Andersen-Tawil syndrome
Design
Review
Authors
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High ATS phenotypic variability warrants individualized arrhythmia surveillance; leaves open complete genotype-phenotype correlations.
This review highlights the genetic heterogeneity and phenotypic variability of Andersen-Tawil syndrome, emphasizing that while KCNJ2 mutations are the primary cause, nearly 40% of cases have an unknown genetic basis.
Donaldson et al. (2004) conducted a review in Andersen-Tawil syndrome. KCNJ2 mutations was evaluated. Andersen-Tawil syndrome is a channelopathy characterized by periodic paralysis, cardiac arrhythmias, and developmental dysmorphisms, primarily caused by KCNJ2 mutations with high phenotypic variability.