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2014 | OriginalPaper | Hoofdstuk

2. Founder mutations among the Dutch*

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

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

Uitgeverij: Bohn Stafleu van Loghum

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Samenvatting

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.
vorige hoofdstuk Introduction
volgende hoofdstuk Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome*
Literatuur
1.
de la Chapelle A, Wright FA: Linkage disequilibrium mapping in isolated populations: the example of Finland revisited. Proc Natl Acad Sci USA 1998; 95: 12416–12423.CrossRefPubMedPubMedCentral
2.
Pauling L, Itano HA, Singer SJ, Wells IC: Sickle cell anemia: a molecular disease. Science 1949; 110: 543.CrossRefPubMed
3.
Slaugenhaupt SA, Blumenfeld A, Gill SP et al: Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet 2001; 68: 598–605.CrossRefPubMedPubMedCentral
4.
Zlotogora J: High frequencies of human genetic diseases: founder effect with genetic drift or selection?Am J Med Genet 1994; 49: 10–13.CrossRefPubMed
5.
Kronn D, Oddoux C, Phillips JH: Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population. Am J Hum Genet 1995; 57: 1250–1252.PubMedPubMedCentral
6.
Pastinen T, Perola M, Ignatius J et al: Dissecting a population genome for targeted screening of disease mutations. Hum Mol Genet 2001; 10: 2961–2972.CrossRefPubMed
7.
Struewing JP, Hartge P, Wacholder S et al: The risk of cancer associated with specific mutations of BRCA1 BRCA2 among Ashkenazi Jews. New Engl J Med 1997; 336: 1401–1408.CrossRefPubMed
8.
Oddoux C, Struewing JP, Clayton CM et al: The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nat Genet 1996; 14: 188–190.CrossRefPubMed
9.
Reich DE, Cargill M, Bolk S et al: Linkage disequilibrium in the human genome. Nature 2001; 411: 199–204.CrossRefPubMed
10.
Hastbacka J, de la Chapelle A, Kaitila I, Sistonen P, Weaver A, Lander E: Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland (published erratum appears in Nat. Genet. 2(4):343, 1992). Nat Genet 1992; 2: 204–211.CrossRefPubMed
11.
Risch N, Merikangas K: The future of genetic studies of complex human diseases. Science 1996; 273: 1516–1517.CrossRefPubMed
12.
13.
Peltonen L, Jalanko AT: Molecular genetics of the Finnish disease heritage. Hum Mol Genet 1999; 8: 1913–1923.CrossRefPubMed
14.
15.
Cunliffe B: The Oxford Illustrated Prehistory of Europe, New York: Oxford University Press; 1994.
16.
17.
Semino O, Passarino G, Oefner PJ et al: The genetic legacy of paleolithic Homo sapiens in extant Europeans: a Y chromosome perspective. Science 2000; 290: 1155–1159.CrossRefPubMed
18.
Rosser ZH, Zerjal T, Hurles ME et al: Y-chromosomal diversity in Europe is clinal influenced primarily by geography rather than by language. Am J Hum Genet 2000; 67: 1526–1543.CrossRefPubMedPubMedCentral
19.
Renfrew C: Archeology Language: The Puzzle of Indo-European Origins. London: Jonathan Cape; 1987.
20.
Rietbergen PJAN, Seegers GHJ: A Short History of the Netherlands: From Prehistory to Present Day. Amersfoort: Bekking Publishers; 1992.
21.
Van der Woude AM: Demografische ontwikkeling van de noordelijke nederlanden 1500–1800. in Algemene geschiedenis der Nederlanden. Haarlem: Fibula; 1980.
22.
Lucassen J: ‘Dutch migration 1600–1900’. in Eiras A (ed): Long Distance Migrations (1500–1900). Madrid: Commission Internationale de Démographie Historique; 1990.
23.
Stokvis PRD: Dutch international migration 1815–1910. in Swierenga RP(ed)The Dutch in America. Immigration, Settlement and Cultural Change. New Brunswick: Rutgers University Press; 1985.
24.
Knippenberg H, dePater B: De eenwording van Nederland. Nijmegen: SUN; 1988.
25.
van Poppel F: Verbreding van de horizon? veranderingen in geografische herkomst van huwelijkspartners. Acta Geograph Lovaniensia 1994; 34: 79–88.
26.
Kok J: ‘Vrijt daar je zijt’; Huwelijk en partnerkeuze in Zeeland tussen 1830 en 1950. Zeeland; 1998;7: 131–143.
27.
Knippenberg H: De religieuze kaart van Nederland: omvang en geografisch spreiding van de godsdienstige gezindten vanaf de reformatie tot heden. Assen: Van Gorcum; 1992.
28.
Beekink E, Liefbroer A, Poppel F: Changes in choice of spouse as an indicator of a society in a state of transition: Woerden 1830–1930. Historical Social Res 1998; 23: 231–253.
29.
Polman A: Geografische en confessionele invloeden bij de huwelijkskeuze in Nederland. Leiden: Stenfert kroese; 1951.
30.
Hendrickx J: The Analysis of Religious Assortative Marriage. An Application of Design Techniques for Categorical Models. Amsterdam: Thesis Publishers; 1994.
31.
Van Poppel F, Mandemakers K, Vaders op leeftijd: Vergelijking met de 19e eeuw. Demos 2002; 18: 13–16.
32.
Bull LN, van Eijk MJ, Pawlikowska L et al: A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 1998; 18: 219–224.CrossRefPubMed
33.
Houwen RH, Baharloo S, Blankenship K et al: Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nat Genet 1994; 8: 380–386.CrossRefPubMed
34.
Vaessen N, Heutink P, Houwing-Duistermaat JJ et al: A genome-wide search for linkage-disequilibrium with type 1 diabetes in a recent genetically isolated population from the netherlands. Diabetes 2002; 51: 856–859.CrossRefPubMed
35.
Taschner PE, Franken PF, van Berkel L, Breuning MH: Genetic heterogeneity of neuronal ceroid lipofuscinosis in the Netherlands. Mol Genet Metab 1999; 66: 339–343.CrossRefPubMed
36.
van den Heuvel LP, Luiten B, Smeitink JA et al: A common point mutation in the tyrosine hydroxylase gene in autosomal recessive L-DOPA-responsive dystonia in the dutch population. Hum Genet 1998; 102: 644–646.CrossRefPubMed
37.
Heutink P, Zguricas J, van Oosterhout L et al: The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q. Nat Genet 1994; 6: 287–292.CrossRefPubMed
38.
Taschner PE, Jansen JC, Baysal BE et al: Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. Genes Chromosomes Cancer 2001; 31: 274–281.CrossRefPubMed
39.
van Schothorst EM, Jansen JC, Grooters E et al: Founder effect at PGL1 in hereditary head neck paraganglioma families from the Netherlands. Am J Hum Genet 1998; 63: 468–473.CrossRefPubMedPubMedCentral
40.
Peelen T, van Vliet M, Petrij-Bosch A et al: A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch Belgian hereditary breast ovarian cancer families. Am J Hum Genet 1997; 60: 1041–1049.PubMedPubMedCentral
41.
Verhoog LC, van den Ouweland AM, Berns E et al: Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families. Eur J Cancer 2001; 37: 2082–2090.CrossRefPubMed
42.
Petrij-Bosch A, Peelen T, van Vliet M et al: BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 1997; 17: 341–345.CrossRefPubMed
43.
Fouchier SW, Defesche JC, Umans-Eckenhausen MW, Kastelein JP: The molecular basis of familial hypercholesterolemia in the Netherlands. Hum Genet 2001; 109: 602–615.CrossRefPubMed
44.
Top B, Koeleman BP, Gevers Leuven JA, Havekes LM, Frants RR: Rearrangements in the LDL receptor gene in Dutch familial hypercholesterolemic patients the presence of a common 4 kb deletion. Atherosclerosis 1990; 83: 127–136.CrossRefPubMed
45.
Rizzu P, Van Swieten JC, Joosse M et al: High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands. Am J Hum Genet 1999; 64: 414–421.CrossRefPubMedPubMedCentral
46.
Taschner JG, de Vos N, Post JG et al: Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis). Am J Med Genet 1995; 57: 333–337.CrossRefPubMed
47.
Gruis NA, van der Velden PA, Sandkuijl LA et al: Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds. Nat Genet 1995; 10: 351–353.CrossRefPubMed
48.
Reitsma PH, Poort SR, Allaart CF, Briet E, Bertina RM: The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity founder effects. Blood 1991; 78: 890–894.PubMed
49.
Weber B, van de Kamp JJ, Kleijer WJ et al: Identification of a common mutation (R245H) in sanfilippo a patients from the netherlands. J Inherit Metab Dis 1998; 21: 416–422.CrossRefPubMed
50.
Poorthuis BJ, Wevers RA, Kleijer WJ et al: The frequency of lysosomal storage diseases in the Netherlands. Hum Genet 1999; 105: 151–156.CrossRefPubMed
51.
Gu XF, de Rooij F, Lee JS et al: High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria. Hum Genet 1993; 91: 128–130.CrossRefPubMed
52.
Schollen E, Kjaergaard S, Legius E, Schwartz M, Matthijs G: Lack of Hardy–Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). Eur J Hum Genet 2000; 8: 367–371.CrossRefPubMed
53.
Collee JM, de Vries HG, Scheffer H, Halley DJ, ten Kate LP: Relative frequencies of cystic fibrosis mutations in The Netherlands as an illustration of significant regional variation in a small country. Hum Genet 1998; 102: 587–590.CrossRefPubMed
54.
Scheffer H, Stulp RP, Verlind E et al: Implications of intragenic marker homozygosity haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa. Hum Genet 1997; 100: 230–235.CrossRefPubMed
55.
Kroos MA, Van der Kraan M, Van Diggelen OP et al: Glycogen storage disease type II: frequency of three common mutant alleles their associated clinical phenotypes studied in 121 patients. J Med Genet 1995; 32: 836–837.CrossRefPubMedPubMedCentral
56.
Ausems MG, Verbiest J, Hermans MP et al: Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis genetic counseling. Eur J Hum Genet 1999; 7: 713–716.CrossRefPubMed
57.
Ausems MG, ten Berg K, Sandkuijl LA et al: Dutch patients with glycogen storage disease type II show common ancestry for the 525delT del exon 18 mutations. J Med Genet 2001; 38: 527–529.CrossRefPubMedPubMedCentral
58.
Kleijer WJ, Keulemans JL, van der Kraan M et al: Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin. J Inherit Metab Dis 1997; 20: 587–594.CrossRefPubMed
59.
Gregersen N, Winter V, Curtis D et al: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from Northwestern Europe. Hum Hered 1993; 43: 342–350.CrossRefPubMed
60.
Maugeri A, van Driel MA, van de Pol DJ et al: The 2588G–>C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population allows the classification of ABCR mutations in patients with Stargardt disease. Am J Hum Genet 1999; 64: 1024–1035.CrossRefPubMedPubMedCentral
61.
Buyle S, Reyniers E, Vits L et al: Founder effect in a Belgian–Dutch fragile X population. Hum Genet 1993; 92: 269–272.CrossRefPubMed
62.
Goldman A, Labrum R, Claustres M et al: The molecular basis of cystic fibrosis in South Africa. Clin Genet 2001; 59: 37–41.CrossRefPubMed
63.
Tipping AJ, Pearson T, Morgan NV et al: Molecular genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa. Proc Natl Acad Sci USA 2001; 98: 5734–5739.CrossRefPubMedPubMedCentral
64.
Moolman-Smook JC, De Lange WJ, Bruwer EC, Brink PA, Corfield VA: The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent founder events. Am J Hum Genet 1999; 65: 1308–1320.CrossRefPubMedPubMedCentral
65.
Moolman-Smook J, De Lange W, Corfield V, Brink P: Expression of HCM causing mutations: lessons learnt from genotype–phenotype studies of the South African founder MYH7 A797T mutation. J Med Genet 2000; 37: 951–956.CrossRefPubMedPubMedCentral
66.
Meissner PN, Dailey TA, Hift RJ et al: A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity is prevalent in South Africans with variegate porphyria. Nat Genet 1996; 13: 95–97.CrossRefPubMed
67.
Warnich L, Kotze MJ, Groenewald IM et al: Identification of three mutations associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria. Hum Mol Genet 1996; 5: 981–984.CrossRefPubMed
68.
Howell N, Oostra R, Bolhuis P et al: Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 2003; 72: 1460–1469.CrossRefPubMedPubMedCentral
69.
Dean G: The Porphyrias: A story of inheritance and environment. Philadelphia: J.B. Lippincott; 1963.
Metagegevens
Titel
Founder mutations among the Dutch*
Auteurs
Maurice P A Zeegers
Frans van Poppel
Robert Vlietinck
Liesbeth Spruijt
Harry Ostrer
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_2