Low penetrance of a SDHB mutation in a large Dutch paraganglioma family

BMC Medical Genetics

Volumn 11, Issue 1, 2010, Pages

  Hes, Frederik J ^a   Weiss, Marjan M ^a   Woortman, Sanne A ^a   de Miranda, Noel F ^a   van Bunderen, Patrick A ^a   Bonsing, Bert A ^a   Stokkel, Marcel P M ^a   Morreau, Hans ^a   Romijn, Johannes A ^a   Jansen, Jeroen C ^a   Vriends, Annette H J T ^a   Bayley, Jean Pierre L ^a   Corssmit, Eleonora P M ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

3 O METHYLDOPAMINE; NORADRENALIN; SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE SUBUNIT B; UNCLASSIFIED DRUG; VANILMANDELIC ACID;

ADULT; AORTA; ARTICLE; CASE REPORT; CLINICAL EVALUATION; DNA DETERMINATION; GANGLIONEUROMA; GENETIC SCREENING; HAPLOTYPE; HISTOPATHOLOGY; HUMAN; HYPERTENSION; INFERIOR CAVA VEIN; LAPAROSCOPIC SURGERY; MALE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NETHERLANDS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PARAGANGLIOMA; PEDIGREE ANALYSIS; PENETRANCE; PHENOTYPE; URINALYSIS; VAGUS NERVE; CHEMODECTOMA; GENE; GENETICS; MUTATION; PATHOLOGY;

GENES; GERM-LINE MUTATION; HUMANS; MUTATION; PARAGANGLIOMA; PARAGANGLIOMA, EXTRA-ADRENAL; PENETRANCE; PHENOTYPE; SUCCINATE DEHYDROGENASE;

EID: 77953303985     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-11-92     Document Type: Article

References (17)

1. Martin TP, Irving RM, Maher ER. The genetics of paragangliomas: a review. Clin Otolaryngol 2007, 32:7-11. 10.1111/j.1365-2273.2007.01464.x, 17298303.
2. Young AL, Baysal BE, Deb A, Young WF. Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene. J Clin Endocrinol Metab 2002, 87:4101-4105. 10.1210/jc.2002-020312, 12213855.
3. Neumann HP, Pawlu C, Peczkowska M, Bausch B, McWhinney SR, Muresan M, Buchta M, Franke G, Klisch J, Bley TA, Hoegerle S, Boedeker CC, Opocher G, Schipper J, Januszewicz A, Eng C. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 2004, 292:943-951. 10.1001/jama.292.8.943, 15328326.
4. Benn DE, Gimenez-Roqueplo AP, Reilly JR, Bertherat J, Burgess J, Byth K, Croxson M, Dahia PL, Elston M, Gimm O, Henley D, Herman P, Murday V, Niccoli-Sire P, Pasieka JL, Rohmer V, Tucker K, Jeunemaitre X, Marsh DJ, Plouin PF, Robinson BG. Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab 2006, 91:827-836. 10.1210/jc.2005-1862, 16317055.
5. Brouwers FM, Eisenhofer G, Tao JJ, Kant JA, Adams KT, Linehan WM, Pacak K. High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing. J Clin Endocrinol Metab 2006, 91:4505-4509. 10.1210/jc.2006-0423, 16912137.
6. Havekes B, Corssmit EP, Jansen JC, van der Mey AG, Vriends AH, Romijn JA. Malignant paragangliomas associated with mutations in the succinate dehydrogenase D gene. J Clin Endocrinol Metab 2007, 92:1245-1248. 10.1210/jc.2006-1993, 17227803.
7. Solis D, Burnichon N, Timmers HJ, Raygada MJ, Kozupa A, Merino MJ, Makey D, Adams KT, Venisse A, Gimenez-Roqueplo AP, Pacak K. Penetrance and clinical consequences of a gross SDHB deletion in a large family. Clin Genet 2009, 75:354-363. 10.1111/j.1399-0004.2009.01157.x, 19389109.
8. McDonnell CM, Benn DE, Marsh DJ, Robinson BG, Zacharin MR. K40E: a novel succinate dehydrogenase (SDH)B mutation causing familial phaeochromocytoma and paraganglioma. Clin Endocrinol (Oxf) 2004, 61:510-514. 10.1111/j.1365-2265.2004.02122.x, 15473885.
9. van Houtum WH, Corssmit EP, Douwes Dekker PB, Jansen JC, van der Mey AG, Brocker-Vriends AH, Taschner PE, Losekoot M, Frolich M, Stokkel MP, Cornelisse CJ, Romijn JA. Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas. Eur J Endocrinol 2005, 152:87-94. 10.1530/eje.1.01833, 15762191.
10. Havekes B, van der KA, Weiss M, Jansen J, van der Klaauw A, Weis M, Vriends A, Bonsing B, Romijn J, Corssmit E. Pheochromocytomas and extra-adrenal paragangliomas detected by screening in patients with SDHD-associated head-and-neck paragangliomas. Endocr Relat Cancer 2009, 16:527-536. 10.1677/ERC-09-0024, 19289533.
11. Bayley JP, van M I, Weiss MM, Jansen JC, Oomen PH, Menko FH, Pasini B, Ferrando B, Wong N, Alpert LC, Williams R, Blair E, Devilee P, Taschner PE. 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):1. 10.1186/1471-2350-7-1, 1343542, 16405730.
12. Taschner PE, Jansen JC, Baysal BE, Bosch A, Rosenberg EH, Brocker-Vriends AH, Der Mey AG, Van Ommen GJ, Cornelisse CJ, Devilee P. Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. Genes Chromosomes Cancer 2001, 31:274-281. 10.1002/gcc.1144, 11391798.
13. Baysal BE, Willett-Brozick JE, Lawrence EC, Drovdlic CM, Savul SA, McLeod DR, Yee HA, Brackmann DE, Slattery WH, Myers EN, Ferrell RE, Rubinstein WS. Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. J Med Genet 2002, 39:178-183. 10.1136/jmg.39.3.178, 1735061, 11897817.
14. Young WF. Paragangliomas: clinical overview. Ann N Y Acad Sci 2006, 1073:21-29. 10.1196/annals.1353.002, 17102068.
15. Timmers HJ, Kozupa A, Eisenhofer G, Raygada M, Adams KT, Solis D, Lenders JW, Pacak K. Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas. J Clin Endocrinol Metab 2007, 92:779-786. 10.1210/jc.2006-2315, 17200167.
16. Cascon A, Landa I, Lopez-Jimenez E, Diez-Hernandez A, Buchta M, Montero-Conde C, Leskela S, Leandro-Garcia LJ, Leton R, Rodriguez-Antona C, Eng C, Neumann HP, Robledo M. Molecular characterisation of a common SDHB deletion in paraganglioma patients. J Med Genet 2008, 45:233-238. 10.1136/jmg.2007.054965, 18057081.
17. Bayley JP, Grimbergen AE, van Bunderen PA, van der Wielen M, Kunst HP, Lenders JW, Jansen JC, Dullaart RP, Devilee P, Corssmit EP, Vriends AH, Losekoot M, Weiss MM. The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients. BMC Med Genet 2009, 10:34. 10.1186/1471-2350-10-34, 2670821, 19368708.