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vorige hoofdstuk Founder mutations among the Dutch*

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2014 | OriginalPaper | Hoofdstuk

3. Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome*

eerste hoofdstuk lezen

Auteurs: N. Hofman, R. Jongbloed, P. G. Postema, E. Nannenberg, M. Alders, A. A. M. Wilde

Uitgeverij: Bohn Stafleu van Loghum

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

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Samenvatting

Background and objective

The long-QT syndrome (LQTS) is associated with premature sudden cardiac deaths affecting whole families and is caused by mutations in genes encoding for cardiac proteins. When the same mutation is found in different families (recurrent mutations), this may imply either a common ancestor (founder) or multiple de novo mutations. We aimed to review recurrent mutations in patients with LQTS.

Methods

By use of our databases, we investigated the number of mutations that were found recurrently (at least three times) in LQT type 1–3 patients in the Netherlands. We studied familial links in the apparently unrelated probands, and we visualised the geographical distribution of these probands. Our results were compared with published literature of founder effects in LQTS outside the Netherlands.

Results

We counted 14 recurrent LQT mutations in the Netherlands. There are 326 identified carriers of one of these mutations. For three of these mutations, familial links were found between apparently unrelated probands.

Conclusion

Whereas true LQT founder mutations are described elsewhere in the world, we cannot yet demonstrate a real founder effect of these recurrent mutations in the Netherlands. Further studies on the prevalence of these mutations are indicated, and haplotype-sharing of the mutation carriers is pertinent to provide more evidence for founder mutation-based LQTS pathology in our country.

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Titel

Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome*

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_3

Auteurs:

N. Hofman
R. Jongbloed
P. G. Postema
E. Nannenberg
M. Alders
A. A. M. Wilde

Uitgeverij

Bohn Stafleu van Loghum

Volgnummer

Hoofdstuknummer