A novel mechanism for human cardiac ankyrin-B syndrome due to reciprocal chromosomal translocation
AJ Huq, MD Pertile, AM Davis, H Landon… - Heart, Lung and …, 2017 - Elsevier
Background Cardiac rhythm abnormalities are a leading cause of morbidity and mortality in
developed countries. Loss-of-function variants in the ANK2 gene can cause a variety of
cardiac rhythm abnormalities including sinus node dysfunction, atrial fibrillation and
ventricular arrhythmias (called the “ankyrin-B syndrome”). ANK2 encodes ankyrin-B, a
molecule critical for the membrane targeting of key cardiac ion channels, transporters, and
signalling proteins. Methods and Results Here, we describe a family with a reciprocal …
developed countries. Loss-of-function variants in the ANK2 gene can cause a variety of
cardiac rhythm abnormalities including sinus node dysfunction, atrial fibrillation and
ventricular arrhythmias (called the “ankyrin-B syndrome”). ANK2 encodes ankyrin-B, a
molecule critical for the membrane targeting of key cardiac ion channels, transporters, and
signalling proteins. Methods and Results Here, we describe a family with a reciprocal …