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2014 | OriginalPaper | Hoofdstuk

11. Recurrent and founder mutations in the Netherlands – Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy*

Auteurs : P. A. van der Zwaag, I. A. W. van Rijsingen, R. de Ruiter, E. A. Nannenberg, J. A. Groeneweg, J. G. Post, R. N. W. Hauer, I. C. van Gelder, M. P. van den Berg, P. van der Harst, A. A. M. Wilde, J. P. van Tintelen

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

Uitgeverij: Bohn Stafleu van Loghum

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Samenvatting

Background

Recently, we showed that the c.40_42delAGA (p.Arg14del) mutation in the phospholamban (PLN) gene can be identified in 10–15 % of Dutch patients with dilated cardiomyopathy or arrhythmogenic cardiomyopathy. The arrhythmogenic burden of the p.Arg14del mutation was illustrated by the high rate of appropriate ICD discharges and a positive family history for sudden cardiac death.

Methods

Our goal was to evaluate the geographical distribution and the origin of this specific mutation in the Netherlands and to get an estimation of the prevalence in a Dutch population cohort. Therefore, we investigated the postal codes of the places of residence of PLN p.Arg14del mutation carriers and places of birth of their ancestors. In addition, a large population-based cohort (PREVEND) was screened for the presence of this mutation.

Results

By April 2012, we had identified 101 probands carrying the PLN p.Arg14del mutation. A total of 358 family members were also found to carry this mutation, resulting in a total of 459 mutation carriers. The majority of mutation carriers live in the northern part of the Netherlands and analysing their grandparents’ places of birth indicated that the mutation likely originated in the eastern part of the province of Friesland. In the PREVEND cohort we identified six heterozygous PLN p.Arg14del mutation carriers out of 8,267 subjects (0.07 %).

Conclusion

The p.Arg14del mutation in the PLN gene is the most frequently identified mutation in Dutch cardiomyopathy patients. The mutation that arose 575–825 years ago is likely to have originated from the eastern part of the province of Friesland and is highly prevalent in the general population in the northern part of the Netherlands.
vorige hoofdstuk Recurrent and founder mutations in the Netherlands: Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia*
volgende hoofdstuk Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation*
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Metagegevens
Titel
Recurrent and founder mutations in the Netherlands – Phospholamban p.Arg14del mutation causes arrhythmogenic cardiomyopathy*
Auteurs
P. A. van der Zwaag
I. A. W. van Rijsingen
R. de Ruiter
E. A. Nannenberg
J. A. Groeneweg
J. G. Post
R. N. W. Hauer
I. C. van Gelder
M. P. van den Berg
P. van der Harst
A. A. M. Wilde
J. P. van Tintelen
Copyright
2014
Uitgeverij
Bohn Stafleu van Loghum
Boek
Founder mutations in inherited cardiac diseases in the Netherlands

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

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

Copyright: 2014

DOI
https://doi.org/10.1007/978-90-368-0705-0_11