Founder mutations among the Dutch

Maurice P A Zeegers, Frans van Poppel, Robert Vlietinck, Liesbeth Spruijt, Harry Ostrer

Research output: Contribution to journalArticle

52 Citations (Scopus)

Abstract

Many genetic disorders demonstrate mutations that can be traced to a founder, sometimes a person who can be identified. These founder mutations have generated considerable interest, because they facilitate studies of prevalence and penetrance and can be used to quantify the degree of homogeneity within a population. This paper reports on founder mutations among the Dutch and relates their occurrence to the history and demography of the Netherlands. International migration, regional and religious endogamy, and rapid population growth played key roles in shaping the Dutch population. In the first millenniums BC and AD, the Netherlands were invaded by Celts, Romans, Huns, and Germans. In more recent times, large numbers of Huguenots and Germans migrated into the Netherlands. Population growth within the Netherlands was slow until the 19th century, when a period of rapid population growth started. Today, the Dutch population numbers 16 million inhabitants. Several different classes of founder mutations have been identified among the Dutch. Some mutations occur among people who represent genetic isolates within this country. These include mutations for benign familial cholestasis, diabetes mellitus, type I, infantile neuronal ceroid lipofuscinosis, L-DOPA responsive dystonia, and triphalangeal thumb. Although not related to a specific isolate, other founder mutations were identified only within the Netherlands, including those predisposing for hereditary breast-ovarian cancer, familial hypercholesterolemia, frontotemporal dementia, hereditary paragangliomas, juvenile neuronal ceroid lipofuscinosis, malignant melanoma, protein C deficiency, and San Filippo disease. Many of these show a regional distribution, suggesting dissemination from a founder. Some mutations that occur among the Dutch are shared with other European populations and others have been transmitted by Dutch émigrés to their descendents in North America and South Africa. The occurrence of short chromosomal regions that have remained identical by descent has resulted in relatively limited genetic heterogeneity for many genetic conditions among the Dutch. These observations demonstrate the opportunity for gene discovery for other diseases and traits in the Netherlands.

Original languageEnglish (US)
Pages (from-to)591-600
Number of pages10
JournalEuropean Journal of Human Genetics
Volume12
Issue number7
DOIs
StatePublished - Jul 2004
Externally publishedYes

Fingerprint

Netherlands
Mutation
Population Growth
Neuronal Ceroid-Lipofuscinoses
Population
Protein C Deficiency
Northern Africa
Frontotemporal Dementia
Paraganglioma
Inborn Genetic Diseases
Hyperlipoproteinemia Type II
Genetic Heterogeneity
Penetrance
Dystonia
Cholestasis
Emigration and Immigration
Genetic Association Studies
North America
South Africa
Type 1 Diabetes Mellitus

Keywords

  • Demography
  • Founder mutation
  • Netherlands
  • Population genetics

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Zeegers, M. P. A., van Poppel, F., Vlietinck, R., Spruijt, L., & Ostrer, H. (2004). Founder mutations among the Dutch. European Journal of Human Genetics, 12(7), 591-600. https://doi.org/10.1038/sj.ejhg.5201151

Founder mutations among the Dutch. / Zeegers, Maurice P A; van Poppel, Frans; Vlietinck, Robert; Spruijt, Liesbeth; Ostrer, Harry.

In: European Journal of Human Genetics, Vol. 12, No. 7, 07.2004, p. 591-600.

Research output: Contribution to journalArticle

Zeegers, MPA, van Poppel, F, Vlietinck, R, Spruijt, L & Ostrer, H 2004, 'Founder mutations among the Dutch', European Journal of Human Genetics, vol. 12, no. 7, pp. 591-600. https://doi.org/10.1038/sj.ejhg.5201151
Zeegers MPA, van Poppel F, Vlietinck R, Spruijt L, Ostrer H. Founder mutations among the Dutch. European Journal of Human Genetics. 2004 Jul;12(7):591-600. https://doi.org/10.1038/sj.ejhg.5201151
Zeegers, Maurice P A ; van Poppel, Frans ; Vlietinck, Robert ; Spruijt, Liesbeth ; Ostrer, Harry. / Founder mutations among the Dutch. In: European Journal of Human Genetics. 2004 ; Vol. 12, No. 7. pp. 591-600.
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