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Department of Medical Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
Department of Clinical Genetics, Amsterdam Medical Center, Amsterdam, the Netherlands
Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands
Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands
Department of Cardiology, University Medical Center Utrecht, the Netherlands
Department of Paediatric Cardiology, Beatrix Children’s Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
Department of Cardiology, Erasmus Medical Center, Rotterdam, the Netherlands
Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
Department of Genetics, University Medical Center Groningen, University of Groningen, PO Box 30001, 9700 RB Groningen, the Netherlands
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.)
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- Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy
R. H. Lekanne dit Deprez
M. M. Weiss
M. van Slegtenhorst
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
- Bohn Stafleu van Loghum