This paper describes characterizing the gene KCNE2 as an ion channel. To test whether variants in the gene could cause disease, they screened for KCNE2 variants in 20 patients with drug-induced arrhythmia and 230 with arrhythmias and no known mutations (KVLQT1, HERG, SCN5A, or KCNE1). Three variants were found in the patient cohort that were not present in 1010 control individuals, and a fourth variant was classified as a polymorphism. One of the three was I57T, found in a Hispanic female with arrhythmia. The authors mention that she was part of a multigenerational family under evaluation, but do not describe any follow-up or data from other family members.
Although the aggregate data may be significant, the individual case here does not achieve a statistically significant difference from controls: case+: 1, case-: 249, control+: 0, control-: 1010. (p = 0.198)