Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell–Cell Adhesion Structures
Rene L. Begay, Sharon L. Graw, Gianfranco Sinagra, Angeliki Asimaki, Teisha J. Rowland, Dobromir B. Slavov, Katherine Gowan, Kenneth L. Jones, Francesca Brun, Marco Merlo, Daniela Miani, Mary Sweet, Kalpana Devaraj, Eric P. Wartchow, Marta Gigli, Ilaria Puggia, Ernesto E. Salcedo, Deborah M. Garrity, Amrut V. Ambardekar, Peter Buttrick, T. Brett Reece, Michael R. Bristow, Jeffrey E. Saffitz, Luisa Mestroni and Matthew R.G. Taylor
Structural Distribution of Truncating Variants in the Human FLNC Protein
Schematic of the FLNC immunoglobulin-like repeats labeled 1 to 24 using transcript NP_001449.3. Hinge 1 and 2 domains are labeled as H1 and H2, respectively. Red vertical lines indicate protein positions of the 6 FLNC truncation variants detected in our dilated cardiomyopathy (DCM) families. Black vertical lines represent previously reported hypertrophic cardiomyopathy (HCM) (7), restrictive cardiomyopathy (RCM) (8), DCM variants (12), and myofibrillar skeletal myopathies (MFM) (6) variants.