Andersen-Tawil syndrome is a skeletal and cardiac muscle disease with developmental
features caused by mutations in the inward rectifier K+ channel gene KCNJ2. Patients
harboring these mutations exhibit extremely variable expressivities. To explore whether
these mutations can be correlated with a specific patient phenotype, we expressed both wild-
type (WT) and mutant genes cloned into a bi-cistronic vector. Functional expression in
human embryonic kidney 293 cells showed that none of the mutant channels express …