Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas

Hormone and Metabolic Research

Volumn 44, Issue 5, 2012, Pages 334-338

  Lefebvre, S ^a   Borson Chazot, F ^b   Boutry Kryza, N ^a   Wion, N ^c   Schillo, F ^d   Peix, J L ^e   Brunaud, L ^f   Finat, A ^a   Calender, A ^a   Giraud, S ^a  

^a EDOUARD HERRIOT HOSPITAL   (France)

^b HOSPICES CIVILS DE LYON   (France)

^c HÔPITAL MICHALLON   (France)

^d UNIVERSITY HOSPITAL JEAN MINJOZ   (France)

^e CENTRE HOSPITALIER LYON SUD   (France)

^f CHU NANCY BRABOIS   (France)

Author keywords

MPLC; mutation; SDHx genes; TMEM 127

Indexed keywords

MEMBRANE PROTEIN; SDHAF2 PROTEIN; SDHB PROTEIN; SDHC PROTEIN; SDHD PROTEIN; SUCCINATE DEHYDROGENASE; TMEM127 PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL INDICATOR; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC PREDISPOSITION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INVERSE POLYMERASE CHAIN REACTION; LIQUID CHROMATOGRAPHY; MAJOR CLINICAL STUDY; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; NUCLEOTIDE SEQUENCE; PARAGANGLIOMA; PHEOCHROMOCYTOMA; POINT MUTATION; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SCHOOL CHILD; SCREENING TEST; SENSITIVITY ANALYSIS; SEQUENCE ANALYSIS;

ADOLESCENT; ADRENAL GLAND NEOPLASMS; ADULT; AGED; AGED, 80 AND OVER; CHILD; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; PARAGANGLIOMA; PHEOCHROMOCYTOMA; SUCCINATE DEHYDROGENASE; TUMOR MARKERS, BIOLOGICAL; YOUNG ADULT;

EID: 84860841944     PISSN: 00185043     EISSN: 14394286     Source Type: Journal    
DOI: 10.1055/s-0032-1306308     Document Type: Article

References (22)

1. Benn D E, Robinson B G. Genetic basis of phaechromocytoma and paraganglioma. Best Pract Res Clin Endocrinol Metab: 2006; 20 435 450
2. Gimenez-Roqueplo A P, Burnichon N, Amar L, Favier J, Jeunemaitre X, Plouin P F. Recent advances in the genetics of phaeochromocytoma and functional paraganglioma. Clin Exp Pharmacol Physiol: 2008; 35 376 379 (Pubitemid 351326766)
3. Baysal B E, Ferrel R E, Willet-Brozick J E, Lawrence E C, Myssiorek D, Bosch A, Van der Mey A, Taschner PE M, Rubistein W S, Myers E N, Richard C W III, Cornelisse C J, Devilee P, Devlin B. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science: 2000; 287 848 851 (Pubitemid 30084326)
4. Astuti D, Latif F, Dallol A, Dahia PL M, Douglas F, George E, Sköldberg F, Husebye E S, Eng C, Maher E. Gene mutations in the succinate deshydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet: 2001; 69 49 54 (Pubitemid 32614017)
5. Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma type 3. Nat Genet: 2000; 26 268 270
6. Hao H X, Khalimonchuk O, Schraders M, Dephoure N, Bayley J P, Kunst H, Devilee P, Cremers C W, Schiffman J D, Bentz B G, Gygi S P, Winge D R, Kremer H, Rutter J. SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science: 2009; 325 5944 1139 1142
7. Qin Y, Yao L, King E E, Buddavarapu K, Lenci R E, Chocron E S, Lechleiter J D, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo R A, Toledo S P, Stiles C, Aguiar R C, Dahia P L. Germline mutations in TMEM127 confer susceptibility to pheochromocytomas. Nat Genet: 2010; 42 229 233
8. Burnichon N, Rohmer V, Amar L, Herman P, Leboulleux S, Darrouzet V, Niccoli P, Gaillard D, Chabrier G, Chabolle F, Coupier I, Thieblot P, Lecomte P, Bertherat P, Wion-Barbot N, Murat A, Venisse A, Ploin J F, Jeunemaitre X, Gimenez-Roqueplo A P. for the PGL.NET network. The succinate deshydrogenase genetic testing in a large prospective series of patients with paragangliomas. J Clin Endocrinol Metab: 2009; 94 2817 2827
9. Rickets C J, Forman J R, Ratenberry E, Bradshaw N, Lalloo F, Izat L, Cole T R, Armstrong R, Kumar VK A, Morrison P J, Atkison A B, Douglas F, Ball S G, Cook J, Srirangalingam U, Killick P, Kirby G, Aylwin S, Woodward E R, Evans DG R, Hodgson S V, Murday V, Chew S L, Connell J M, Blundell T L, MacdDonald F, Maher E. Tumor risks and genotype-phenotype - proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Hum Mutation: 2010; 31 41 51
10. Bayley J P, Kunst H P, Cascon A, Sampietro M L, Gaal J, Korpershoek E, Hinojar-Gutierrez A, Timmers H J, Hoefsloot L H, Hermsen M A, Surez C, Hussain A K, Vriends A H, Hes F J, Jansen J C, Tops C M, Corssmit E P, de Knijff P, Lenders J W, Cremers C W, Devilee P, Dinjens W N, de Krijger R R, Robledo M. SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol: 2010; 11 366 372
11. Yao L, Schiavi F, Gascon A, Qin Y, Inglada-Perez L, King E E, Toledo R A, Ercolino T, Rpizzi E, Ricketts C J, Mori L, Giacch M, Mendola A, Taschin E, Boaretto F, Loli P, Iacobone M, Rossi G P, Biondi B, Lima-Junior J V, Kater C E, Bex M, Vikkula M, Grossman A B, Gruber S B, Barontini M, Persu A, Castellano M, Toledo S P, Maher E R, Mannelli M, Opocher G, Robledo M, Dahia P L. Spectrum and prevalence of FP/TMEM127 gene mutations in phecochromocytomas and paragangliomas. JAMA: 2010; 304 2611 2619
12. Neumann HP H, Sullivan M, Winter A, Malinoc A, Hoffmann M M, Boedeker C C, Bertz H, Walz M K, Moeller L C, Schmid K W, Eng C. Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdminal sites. J Clin Endocrinol Metab: 2011; 96 E1 E4
13. Meyer-Rochow G Y, Smith J M, Richardson A L, Marsh D J, Sidhu S B, Robinson B G, Benn D E. Denaturing High Performance Liquid Chromatography Detection of SDHB, SDHD, and VHL Germline Mutations in Pheochromocytoma. J Surg Res: 2009; 157 55 62
14. Dehainault C, Lauge A, Caux-moncoutier V, Pages-Berhouet S, Doz F, Desjardins L, Couturier J, Gauthier-Villars M, Stoppa-Lyonnet D, Houdayer C. Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene. Nucleic Acids Res: 2004; 32 e139
15. Bayley J P, Devilee P, Taschner P. The SDH mutation database: on online resource for succinate deshydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. BMC Med Genet: 2005; 6 39
16. Grantham R. Amino Acid difference formula to help explain protein evolution. Science: 1974; 185 4154 862 864
17. Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res: 2002; 30 3894 3900 (Pubitemid 35012462)
18. Ng P C, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res: 2001; 11 863 874 (Pubitemid 32447869)
19. Van Nederveen F H, Gaal J, Favier J, Korpershoek E, Oldenburg R A, de Bruyn E M, Sleddens H F, Derkx P, Rivire J, Dannenberg H, Petri B J, Komminoth P, Pacak K, Hop W C, Pollard P J, Mannelli M, Bayley J P, Perren A, Niemann S, Verhofstad A A, de Brune A P, Maher E R, Tissier F, Matchi T, Badoual C, Bertherat J, Amar L, Alataki D, Van Marck E, Ferrau F, Franois J, de Herder W W, Peeters M P, van Linge A, Lenders J W, Gimenez-Roqueplo A P, de Krijger R R, Dinjens W N. An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. Lancet Oncol. 2009; 10 764 771
20. Xiao W, Oefner P J. Denaturing high performance liquid chromatography: a review. Hum Mutat: 2001; 17 439 474 (Pubitemid 32480082)
21. Pacak K, Eisenhofer G, Ahlman H, Bornstein S R, Gimenez-Roqueplo A P, Grossman A B, Kimura N, Mannelli M, McNicol A M, Tischer A S. Pheochromocytomas: recommendations for clinical practice from the First International Symposium. October 2005. Nat Clin Pract Endocrinol Metab: 2007; 3 92 102 (Pubitemid 46146962)
22. Jafri M, Maher E R. The genetics of phaechromocytomas - using clinical features to guide genetic testing. Eur J Endoc: 2012; 166 151 158