High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands

Clinical Genetics

Volumn 81, Issue 3, 2012, Pages 284-288

  Hensen, E F ^a,b   van Duinen, N ^a   Jansen, J C ^a   Corssmit, E P M ^a   Tops, C M J ^a   Romijn, J A ^a   Vriends, A H J T ^a   van der Mey, A G L ^a   Cornelisse, C J ^a   Devilee, P ^a   Bayley, J P ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Paraganglioma; Pheochromocytoma; SDHAF2; SDHB; SDHC; SDHD

Indexed keywords

IRON SULFUR PROTEIN; SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE AF2; SUCCINATE DEHYDROGENASE B; SUCCINATE DEHYDROGENASE C; SUCCINATE DEHYDROGENASE D; UNCLASSIFIED DRUG;

ARTICLE; GENE MUTATION; HUMAN; MUTATIONAL ANALYSIS; NETHERLANDS; PARAGANGLIOMA; PHEOCHROMOCYTOMA; PREVALENCE; PRIORITY JOURNAL;

ADRENAL GLAND NEOPLASMS; FOUNDER EFFECT; HUMANS; MUTATION; NETHERLANDS; PARAGANGLIOMA; PHEOCHROMOCYTOMA; PREVALENCE; SUCCINATE DEHYDROGENASE;

EID: 84856489266     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01653.x     Document Type: Article

References (24)

1. Astuti D, Latif F, Dallol A et al. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 2001: 69: 49-54.
2. Baysal BE, Ferrell RE, Willett-Brozick JE et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 2000: 287: 848-851.
3. Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 2000: 26: 268-270.
4. Bayley JP, Kunst HP, Cascon A et al. SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol 2010: 11: 366-372.
5. Hao HX, Khalimonchuk O, Schraders M et al. SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science 2009: 325: 1139-1142.
6. Bayley JP, Grimbergen AE, van Bunderen PA et al. The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients. BMC Med Genet 2009: 10: 34.
7. Cremers CW, De Monnink JP, Arts N, Joosten FB, Kremer H, Hoefsloot L. Clinical report on the L95P mutation in a Dutch family with paraganglioma. Otol Neurotol 2002: 23: 755-759.
8. Taschner PEM, 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.
9. Bayley JP, van Minderhout I, Weiss MM et al. Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma. BMC Med Genet 2006: 7: 1.
10. Hes FJ, Weiss MM, Woortman SA et al. Low penetrance of a SDHB mutation in a large Dutch paraganglioma family. BMC Med Genet 2010: 11: 92.
11. Dannenberg H, Dinjens WN, Abbou M et al. Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma. Clin Cancer Res 2002: 8: 2061-2066.
12. van Schothorst EM, Jansen JC, Grooters E et al. Founder effect at PGL1 in hereditary head and neck paraganglioma families from the Netherlands. Am J Hum Genet 1998: 63: 468-473.
13. Benn DE, Gimenez-Roqueplo AP, Reilly JR et al. Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab 2006: 91: 827-836.
14. Neumann HP, Pawlu C, Peczkowska M et al. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 2004: 292: 943-951.
15. Ricketts CJ, Forman JR, Rattenberry E et al. Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Hum Mutat 2010: 31: 41-51.
16. Hensen EF, Jansen JC, Siemers MD et al. The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family. Eur J Hum Genet 2010: 18: 62-66.
17. Solis DC, Burnichon N, Timmers HJ et al. Penetrance and clinical consequences of a gross SDHB deletion in a large family. Clin Genet 2009: 75: 354-363.
18. Mannelli M, Castellano M, Schiavi F et al. Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas. J Clin Endocrinol Metab 2009: 94: 1541-1547.
19. van Baars F, van den Broek P, Cremers C, Veldman J. Familial non-chromaffinic paragangliomas (glomus tumors) - clinical aspects. Laryngoscope 1981: 91: 988-996.
20. van Baars F, Cremers C, van den Broek P, Geerts S, Veldman J. Genetic-aspects of non-chromaffin paraganglioma. Hum Genet 1982: 60: 305-309.
21. Schiavi F, Boedeker CC, Bausch B et al. Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA 2005: 294: 2057-2063.
22. Zeegers MP, van Poppel F, Vlietinck R, Spruijt L, Ostrer H. Founder mutations among the Dutch. Eur J Hum Genet 2004: 12: 591-600.
23. Erlic Z, Rybicki L, Peczkowska M et al. Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. Clin Cancer Res 2009: 15: 6378-6385.
24. Cascon A, Lopez-Jimenez E, Landa I et al. Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma. Horm Metab Res 2009: 41: 672-675.