Novel Variant in the ANK2 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 [Original Articles]

Conclusions— We identify the first disease-causing ANK2 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 ANK2 in targeting and stabilization of key structural and signaling molecules in cardiac cells.

http://circgenetics.ahajournals.org/cgi/content/short/10/1/e001537?rss=1

Source: Circulation: Cardiovascular Genetics - February 13, 2017 Category: Cardiology Authors: Swayne, L. A., Murphy, N. P., Asuri, S., Chen, L., Xu, X., McIntosh, S., Wang, C., Lancione, P. J., Roberts, J. D., Kerr, C., Sanatani, S., Sherwin, E., Kline, C. F., Zhang, M., Mohler, P. J., Arbour, L. T. Tags: Arrhythmias, Cell Biology/Structural Biology, Clinical Studies, Cardiovascular Disease, Genetics Original Articles Source Type: research