Recurrent and founder mutations in the Netherlands: Mutation p.K217del in troponin T2, causing dilated cardiomyopathy

E. Otten, R. H. Lekanne Dit Deprez, M. M. Weiss, M. Van Slegtenhorst, M. Joosten, J. J. Van Der Smagt, N. De Jonge, W. S. Kerstjens-Frederikse, M. T.R. Roofthooft, A. H.M.M. Balk, M. P. Van Den Berg, J. S. Ruiter, J. P. Van Tintelen

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

Abstract

Background About 30% of dilated cardiomyopathy (DCM) cases are familial. Mutations are mostly found in the genes encoding lamin A/C, beta-myosin heavy chain and the sarcomeric protein cardiac troponin-T (TNNT2). Mutations in TNNT2 are reported in approximately 3% of DCM patients. The overall phenotype caused by TNNT2 mutations is thought to be a fully penetrant, severe disease. This also seems to be true for a recurrent deletion in the TNNT2 gene; p.K217del (also known as p.K210del). Methods We compared the phenotype of all Dutch patients identified as carrying the TNNT2 p.K217del mutation with those described in the literature. All index patients underwent cardiological evaluation. Family screening was done in all described families. Results Six DCM patients carrying the TNNT2 p.K217del mutation were identified from four Dutch families. Mean age of disease manifestation was 33 years. Heart transplantation was required in three of them at ages 12, 18 and 19 years. These outcomes are comparable with those described in the literature. Conclusion Carriers of the TNNT2 p.K217del mutation in our Dutch families, as well as in families described in the literature before, generally show a severe, early-onset form of DCM. (Neth Heart J 2010;18:478-85.).

Original languageEnglish
Title of host publicationFounder Mutations in Inherited Cardiac Diseases in the Netherlands
PublisherBohn Stafleu Van Loghum bv
Pages51-57
Number of pages7
ISBN (Electronic)9789036807050
ISBN (Print)9036807042, 9789036807043
DOIs
Publication statusPublished - 1-Nov-2014

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