Investigating the genetic landscape of DCM in the Finnish population

Published on August 27, 2015

To explore the underlying genetic defects of dilated cardiomyopathy (DCM) we applied OS-Seq technology as a novel comprehensive diagnostic tool. Despite our increasing understanding of the genetics of DCM the genetic basis of the disease is still poorly understood. We were able to identify pathogenic variants in 47.6% of the cases with family history of DCM and in 25.6% without family history using our Pan Cardiomyopathy Panel in the analysis of 145 Finnish DCM patients. Remarkably, 53% of the significant variants found were titin (TTN) truncations. As the link between titin variants and DCM was established only recently, our study adds substantial evidence and highlights the importance of titin variants underlying DCM. Furthermore, this study showed, once again, that targeted, panel-based sequencing enables high diagnostic yields in clinical setting.

PubMed http://www.ncbi.nlm.nih.gov/pubmed/26084686

 

Duodecim 2015;131:69

Last modified: 08.27.2015

News

Blueprint Genetics strengthens its pharmaceutical expertise with new Chairman Hilde Furberg and by appointing Guido Oelkers as a Senior Advisor

Published on December 5, 2018

Blueprint Genetics has gained worldwide momentum and continued global growth in the field of clinical genetic testing of rare inherited diseases. As one of the fastest growing clinical genetic testing businesses globally, Blueprint Genetics has a customer base spanning more than 40 countries. Today, Blueprint Genetics is proud to announce…

Read more

Subscribe to our newsletter