Novel Variant in the <i>ANK2</i> Membrane-Binding Domain Is Associated With Ankyrin-B Syndrome and Structural Heart Disease in a First Nations Population With a High Rate of Long QT Syndrome

Abstract

We identify the first disease-causing <i>ANK2</i> variant localized to the membrane-binding domain resulting in reduced ankyrin-B expression and abnormal localization. Further study is warranted on the potential association of this variant with structural heart disease given the role of <i>ANK2</i> in targeting and stabilization of key structural and signaling molecules in cardiac cells.