Wrestling the Giant: New Approaches for Assessing Titin Variant Pathogenicity

Affiliations

¹ From the Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Stanford University School of Medicine, CA (E.H., V.N.P.); and Children's Hospital, Helsinki University Hospital and University of Helsinki, Finland (E.H.).
² From the Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Stanford University School of Medicine, CA (E.H., V.N.P.); and Children's Hospital, Helsinki University Hospital and University of Helsinki, Finland (E.H.). vparikh@stanford.edu.

Editorial

Emmi Helle et al. Circ Cardiovasc Genet. 2016 Oct.

. 2016 Oct;9(5):392-394.

doi: 10.1161/CIRCGENETICS.116.001594.

¹ From the Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Stanford University School of Medicine, CA (E.H., V.N.P.); and Children's Hospital, Helsinki University Hospital and University of Helsinki, Finland (E.H.).
² From the Stanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Stanford University School of Medicine, CA (E.H., V.N.P.); and Children's Hospital, Helsinki University Hospital and University of Helsinki, Finland (E.H.). vparikh@stanford.edu.

No abstract available

Keywords: Editorials; Titin; dilated cardiomyopathy; genetics; genomics; left ventricular noncompaction.

Comment on

Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.
Hastings R, de Villiers CP, Hooper C, Ormondroyd L, Pagnamenta A, Lise S, Salatino S, Knight SJ, Taylor JC, Thomson KL, Arnold L, Chatziefthimiou SD, Konarev PV, Wilmanns M, Ehler E, Ghisleni A, Gautel M, Blair E, Watkins H, Gehmlich K. Hastings R, et al. Circ Cardiovasc Genet. 2016 Oct;9(5):426-435. doi: 10.1161/CIRCGENETICS.116.001431. Epub 2016 Sep 13. Circ Cardiovasc Genet. 2016. PMID: 27625337 Free PMC article.
Alternative Splicing, Internal Promoter, Nonsense-Mediated Decay, or All Three: Explaining the Distribution of Truncation Variants in Titin.
Deo RC. Deo RC. Circ Cardiovasc Genet. 2016 Oct;9(5):419-425. doi: 10.1161/CIRCGENETICS.116.001513. Epub 2016 Sep 13. Circ Cardiovasc Genet. 2016. PMID: 27625338 Free PMC article.