Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease [Original Articles]

Conclusions— These data expand the repertoire of pathogenic variants associated with cardiovascular disease and validate the diagnostic and research use of whole exome sequencing. We identify NUP37, NUP43, and NUP188 as novel candidate genes for cardiovascular disease, and suggest that dysfunction of the nuclear envelope may be an under-recognized component of inherited cardiac disease in some cases.

http://circgenetics.ahajournals.org/cgi/content/short/10/3/e001443?rss=1

Source: Circulation: Cardiovascular Genetics - June 13, 2017 Category: Cardiology Authors: Haskell, G. T., Jensen, B. C., Samsa, L. A., Marchuk, D., Huang, W., Skrzynia, C., Tilley, C., Seifert, B. A., Rivera-Munoz, E. A., Koller, B., Wilhelmsen, K. C., Liu, J., Alhosaini, H., Weck, K. E., Evans, J. P., Berg, J. S. Tags: Translational Studies, Genetics, Functional Genomics, Congenital Heart Disease Original Articles Source Type: research