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Volume 2013 (2013), Article ID 531658, 8 pages
Quality Assessment of the Genetic Test for Familial Hypercholesterolemia in The Netherlands
1Foundation for the Identification of Persons with Inherited Hypercholesterolemia (StOEH), Amsterdam, The Netherlands
2Department of Vascular Medicine, Academic Medical Center (AMC), 1105 AZ Amsterdam, The Netherlands
3Department of Human Genetics, Forensic Laboratory for DNA Research, Leiden, The Netherlands
Received 14 March 2013; Accepted 10 June 2013
Academic Editor: Gloria L. Vega
Copyright © 2013 Iris Kindt et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- A. L. Beaudet, “Which way for genetic-test regulation? Leave test interpretation to specialists,” Nature, vol. 466, no. 7308, pp. 816–817, 2010.
- B. Chen, M. Gagnon, S. Shahangian, N. L. Anderson, D. A. Howerton, and D. Joe Boone, “Good laboratory practices for molecular genetic testing for heritable diseases and conditions,” Morbidity and Mortality Weekly Report, vol. 58, no. -6, pp. 1–29, 2009.
- J. L. Goldstein, H. H. Hobbs, and M. S. Brown, The Metabolic and Molecular Bases of Inherited Disease, McGraw-Hill, New York, NY, USA, 2001.
- R. Huijgen, M. N. Vissers, J. C. Defesche, P. J. Lansberg, J. J. P. Kastelein, and B. A. Hutten, “Familial hypercholesterolemia: current treatment and advances in management,” Expert Review of Cardiovascular Therapy, vol. 6, no. 4, pp. 567–581, 2008.
- J. Versmissen, D. M. Oosterveer, M. Yazdanpanah et al., “Efficacy of statins in familial hypercholesterolaemia: a long term cohort study,” BMJ, vol. 337, p. a2423, 2008.
- S. E. A. Leigh, A. H. Foster, R. A. Whittall, C. S. Hubbart, and S. E. Humphries, “Update and analysis of the university college London low density lipoprotein receptor familial hypercholesterolemia database,” Annals of Human Genetics, vol. 72, no. 4, pp. 485–498, 2008.
- A. van der Graaf, H. J. Avis, D. M. Kusters et al., “Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children,” Circulation, vol. 123, no. 11, pp. 1167–1173, 2011.
- D. Damgaard, M. L. Larsen, P. H. Nissen et al., “The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population,” Atherosclerosis, vol. 180, no. 1, pp. 155–160, 2005.
- E. S. van Aalst-Cohen, A. C. M. Jansen, M. W. T. Tanck et al., “Diagnosing familial hypercholesterolaemia: the relevance of genetic testing,” European Heart Journal, vol. 27, no. 18, pp. 2240–2246, 2006.
- L. Assouline, E. Levy, J. C. Feoli-Fonseca, C. Godbout, and M. Lambert, “Familial hypercholesterolemia: molecular, biochemical, and clinical characterization of a French-Canadian pediatric population,” Pediatrics, vol. 96, no. 2, pp. 239–246, 1995.
- F. Campagna, F. Martino, M. Bifolco et al., “Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: results of a family and DNA-based screening,” Atherosclerosis, vol. 196, no. 1, pp. 356–364, 2008.
- C. A. Graham, B. P. McIlhatton, C. W. Kirk et al., “Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate,” Atherosclerosis, vol. 182, no. 2, pp. 331–340, 2005.
- F. E. R. Punzalan, R. G. Sy, R. S. Santos et al., “Low density lipoprotein-receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia,” Journal of Atherosclerosis and Thrombosis, vol. 12, no. 5, pp. 276–283, 2005.
- M. A. W. Umans-Eckenhausen, J. C. Defesche, E. J. G. Sijbrands, R. L. J. M. Scheerder, and J. J. P. Kastelein, “Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands,” The Lancet, vol. 357, no. 9251, pp. 165–168, 2001.
- R. Huijgen, I. Kindt, S. B. J. Verhoeven et al., “Two years after molecular diagnosis of familial hypercholesterolemia: majority on cholesterol-lowering treatment but a minority reaches treatment goal,” PLoS ONE, vol. 5, no. 2, Article ID e9220, 2010.
- R. Huijgen, S. J. Homsma, B. A. Hutten et al., “Improved access to life insurance after genetic diagnosis of familial hypercholesterolaemia: cross-sectional postal questionnaire study,” European Journal of Human Genetics, vol. 20, no. 7, pp. 722–728, 2012.
- S. J. M. Homsma, R. Huijgen, S. Middeldorp, E. J. G. Sijbrands, and J. J. P. Kastelein, “Molecular screening for familial hypercholesterolaemia: consequences for life and disability insurance,” European Journal of Human Genetics, vol. 16, no. 1, pp. 14–17, 2008.
- R. Huijgen, I. Kindt, S. W. Fouchier et al., “Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia,” Human Mutation, vol. 31, no. 6, pp. 752–760, 2010.
- R. Huijgen, I. Kindt, J. C. Defesche, and J. J. Kastelein, “Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29 365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants,” European Heart Journal, vol. 33, no. 18, pp. 2325–2330, 2012.
- C. Cobbaert, G. J. M. Boerma, and J. Lindemans, “Evaluation of the Cholestech L.D.X. desktop analyser for cholesterol, HDL-cholesterol, and triacylglycerols in heparinized venous blood,” European Journal of Clinical Chemistry and Clinical Biochemistry, vol. 32, no. 5, pp. 391–394, 1994.
- W. T. Friedewald, R. I. Levy, and D. S. Fredrickson, “Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge,” Clinical Chemistry, vol. 18, no. 6, pp. 499–502, 1972.
- A. M. Gotto Jr., E. L. Bierman, and W. E. Connor, “Recommendations for treatment of hyperlipidemia in adults. A joint statement of the nutritism committee and the Council on arteriosclerosis,” Circulation, vol. 69, no. 5, 1984.
- J. T. den Dunnen and S. E. Antonarakis, “Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion,” Human Mutation, vol. 15, no. 1, pp. 7–12, 2000.
- M. P. Lombardi, E. J. W. Redeker, J. C. Defesche et al., “Molecular genetic testing for familial hypercholesterolemia : spectrum of LDL receptor gene mutations in the Netherlands,” Clinical Genetics, vol. 57, no. 2, pp. 116–124, 2000.
- S. W. Fouchier, J. J. P. Kastelein, and J. C. Defesche, “Update of the molecular basis of familial hypercholesterolemia in The Netherlands,” Human Mutation, vol. 26, no. 6, pp. 550–556, 2005.
- S. Castillo, D. Tejedor, P. Mozas et al., “The apolipoprotein B R3500Q gene mutation in Spanish subjects with a clinical diagnosis of familial hypercholesterolemia,” Atherosclerosis, vol. 165, no. 1, pp. 127–135, 2002.
- I. F. A. C. Fokkema, J. T. Den Dunnen, and P. E. M. Taschner, “LOVD: easy creation of a locus-specific sequence variation database using an “LSDB-in-a-Box” approach,” Human Mutation, vol. 26, no. 2, pp. 63–68, 2005.
- D. M. Kusters, R. Huijgen, J. C. Defesche et al., “Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein b genes,” Netherlands Heart Journal, vol. 19, no. 4, pp. 175–182, 2011.
- R. Huijgen, A. D. M. Stork, J. C. Defesche et al., “Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis,” Clinical Genetics, vol. 81, no. 1, pp. 24–28, 2012.
- P. J. Talmud, S. Shah, R. Whittall, et al., “Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study,” The Lancet, vol. 381, no. 9874, pp. 1293–1301, 2013.