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2014 | OriginalPaper | Hoofdstuk

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

eerste hoofdstuk lezen

Auteurs: 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

Uitgeverij: Bohn Stafleu van Loghum

Gepubliceerd in: Founder mutations in inherited cardiac diseases in the Netherlands

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Samenvatting

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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Titel

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

Boek

Founder mutations in inherited cardiac diseases in the Netherlands

Print ISBN: 978-90-368-0704-3

Elektronisch ISBN: 978-90-368-0705-0

https://doi.org/10.1007/978-90-368-0705-0

DOI

https://doi.org/10.1007/978-90-368-0705-0_8

Auteurs:

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

Uitgeverij

Bohn Stafleu van Loghum

Volgnummer

Hoofdstuknummer