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Gepubliceerd in: Netherlands Heart Journal 11/2009

01-11-2009 | Editorial

Recurrent and founder mutations in inherited cardiac diseases in the Netherlands

Auteurs: J. P. van Tintelen, A. A. M. Wilde, J. D. H. Jongbloed

Gepubliceerd in: Netherlands Heart Journal | Uitgave 11/2009

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Abstract

Since the start of joint outpatient clinics with both cardiologists and clinical geneticists, in 1996, both the number of patients and the research activities in this field have tremendously grown. In 2001, around 600 patients were evaluated for a cardiological disorder in all Dutch departments of clinical genetics, being nearly 5% of all patients evaluated at a department of clinical genetics at that time. These figures rose to 2500 and 10%, respectively, in 2007. This growth can be attributed to several factors such as the expanding possibilities of DNA testing in potentially inherited cardiac disorders, highly motivated people working hard in the joint cardiogenetics outpatient clinics that are now available at all university medical centres and some secondary hospitals, and last but not least growing awareness of cardiologists that part of their daily clinical practice actually deals with families instead of individual patients.
Literatuur
1.
go back to reference Hermans JF, Christiaans I, van Tintelen JP, et al. GENCOR: a national registry for patients and families suffering from a familial heart disease in the Netherlands. Neth Heart J. 2006;14:272–6. Hermans JF, Christiaans I, van Tintelen JP, et al. GENCOR: a national registry for patients and families suffering from a familial heart disease in the Netherlands. Neth Heart J. 2006;14:272–6.
2.
go back to reference Zeegers MPA, van Poppel F, Vlietinck R, et al. Founder mutations among the Dutch. Eur J Hum Genet. 2004;12:591–600. Zeegers MPA, van Poppel F, Vlietinck R, et al. Founder mutations among the Dutch. Eur J Hum Genet. 2004;12:591–600.
3.
go back to reference Fouchier SW, Kastelein JJ, Defesche JC. Update of the molecular basis of familial hypercholesterolemia in The Netherlands. Hum Mutat. 2005;26:550–6. Fouchier SW, Kastelein JJ, Defesche JC. Update of the molecular basis of familial hypercholesterolemia in The Netherlands. Hum Mutat. 2005;26:550–6.
4.
go back to reference Alders M, Jongbloed R, Deelen W, et al. The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. Eur Heart J. 2003;24:1848–53. Alders M, Jongbloed R, Deelen W, et al. The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. Eur Heart J. 2003;24:1848–53.
5.
go back to reference van Tintelen JP, Entius MM, Bhuiyan ZA, et al. Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation. 2006; 113:1650–8. van Tintelen JP, Entius MM, Bhuiyan ZA, et al. Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circulation. 2006; 113:1650–8.
6.
go back to reference Alders M, Koopmann TT, Christiaans I, et al. Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation. Am J Hum Genet. 2009;84:468–76. Alders M, Koopmann TT, Christiaans I, et al. Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation. Am J Hum Genet. 2009;84:468–76.
7.
go back to reference van Tintelen JP, van Gelder IC, Asimaki A, et al. Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene. Heart Rhythm. In Press. DOI:10.1016/j.hrthm.2009.07.041 van Tintelen JP, van Gelder IC, Asimaki A, et al. Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene. Heart Rhythm. In Press. DOI:10.1016/j.hrthm.2009.07.041
8.
go back to reference Defesche JC, Van Diermen DE, Hayden MR, et al. Origin and migration of an Afrikaner founder mutation FHAfrikaner-2 (V408M) causing familial hypercholesterolemia. Gene Geogr. 1996;10:1–10. Defesche JC, Van Diermen DE, Hayden MR, et al. Origin and migration of an Afrikaner founder mutation FHAfrikaner-2 (V408M) causing familial hypercholesterolemia. Gene Geogr. 1996;10:1–10.
9.
go back to reference Crotti L, Spazzolini C, Schwartz PJ, et al. The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification. Circulation. 2007;116:2366–75. Crotti L, Spazzolini C, Schwartz PJ, et al. The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification. Circulation. 2007;116:2366–75.
10.
go back to reference Postema PG, van den Berg MP, van Tintelen JP, et al. Founder mutations in the Netherlands - SCN5a 1795insD, the first described arrhythmia overlap syndrome and one of the largest and best characterised families worldwide. Neth Heart J. 2009;17:422–8. Postema PG, van den Berg MP, van Tintelen JP, et al. Founder mutations in the Netherlands - SCN5a 1795insD, the first described arrhythmia overlap syndrome and one of the largest and best characterised families worldwide. Neth Heart J. 2009;17:422–8.
Metagegevens
Titel
Recurrent and founder mutations in inherited cardiac diseases in the Netherlands
Auteurs
J. P. van Tintelen
A. A. M. Wilde
J. D. H. Jongbloed
Publicatiedatum
01-11-2009
Uitgeverij
Bohn Stafleu van Loghum
Gepubliceerd in
Netherlands Heart Journal / Uitgave 11/2009
Print ISSN: 1568-5888
Elektronisch ISSN: 1876-6250
DOI
https://doi.org/10.1007/BF03086292

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