A novel G106D alteration of the SDHD gene in a pedigree with familial paraganglioma

American Journal of Medical Genetics, Part A

Volumn 140, Issue 22, 2006, Pages 2441-2446

  Ogawa, Kazumi ^a   Shiga, Kiyoto ^a   Saijo, Shigeru ^b   Ogawa, Takenori ^a   Kimura, Noriko ^c   Horii, Akira ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Miyagi Cancer Center   (Japan)

^c TOHOKU ROSAI HOSPITAL   (Japan)

Author keywords

Familial paraganglioma; Mitochondrial complex II; SDHD

Indexed keywords

ASPARTIC ACID; GLYCINE; SUCCINATE DEHYDROGENASE (UBIQUINONE);

ALLELE; ARTICLE; CAROTID BODY TUMOR; EXON; GENE; GENE EXPRESSION; GENE SILENCING; GERM LINE; HUMAN; HUMAN TISSUE; LYMPH NODE METASTASIS; MALIGNANT TRANSFORMATION; MISSENSE MUTATION; PARAGANGLIOMA; PARASYMPATHETIC GANGLION; PEDIGREE; PRIORITY JOURNAL; RESPIRATORY CHAIN; SDHA GENE; SDHB GENE; SDHC GENE; SDHD GENE;

ALLELES; BASE SEQUENCE; CAROTID BODY TUMOR; DNA, NEOPLASM; EXONS; FEMALE; GERM-LINE MUTATION; HEAD AND NECK NEOPLASMS; HUMANS; MALE; PARAGANGLIOMA; PEDIGREE; SUCCINATE DEHYDROGENASE; SUPPRESSION, GENETIC;

EID: 33750584518     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31444     Document Type: Article

References (41)

1. Ackrell BA. 2002. Cytopathies involving mitochondrial complex II. Mol Aspects Med 23:309-384.
2. Arias-Stella J, Valcarcel J. 1976. Chief cell hyperplasia in the human carotid body at high altitudes; Physiologic and pathologic significance. Hum Pathol 7:301-373.
3. Badenhop RF, Cherian S, Lord RS, Baysal BE, Taschner PE, Schofield PR. 2001. Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. Genes Chromosome Cancer 31:255-263.
4. Bayley J-P, Devilee P, Taschner PEM. 2005. The SDH mutation database: An online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. BMC Med Genet 6:39.
5. Baysal BE. 2004. Genomic imprinting and environment in hereditary paraganglioma. Am J Med Genet Part C Semin Med Genet 129C:85-90.
6. Baysal BE, Myers EN. 2002. Etiopathogenesis and clinical presentation of carotid body tumors. Microsc Res Tech 59:256-261.
7. Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, Richard CW III, Cornelisse CJ, Devilee P, Devlin B. 2000. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287:848-851.
8. Baysal BE, Willett-Brozick JE, Lawrence EC, Drovdlic CM, Savul SA, McLeod DR, Yee HA, Brackmann DE, Slattery WH III, Myers EN, Ferrell RE, Rubinstein WS. 2002. Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. J Med Genet 39:178-183.
9. Cascon A, Ruiz-Llorente S, Fraga MF, Leton R, Telleria D, Sastre J, Diez JJ, Martinez Diaz-Guerra G, Diaz Perez JA, Benitez J, Esteller M, Robledo M. 2004. Genetic and epigenetic profile of sporadic pheochromocytomas. J Med Genet 41:e30.
10. Coia LR, Fazekas JT, Farb SN. 1981. Familial chemodectoma. Int J Radiat Oncol Biol Phys 7:949-952.
11. Conley JJ. 1905. The carotid body tumor. A review of 29 cases. Arch Otolaryngol 81:187-193.
12. De Preter K, Vandesompele J, Hoebeeck J, Vandenbroecke C, Smet J, Nuyts A, Laureys G, Combaret V, Van Roy N, Roels F, Van Coster R, Praet M, De Paepe A, Speleman F. 2004. No evidence for involvement of SDHD in neuroblastoma pathogenesis. BMC Cancer 4:55.
13. Eng C, Kiuru M, Fernandez MJ, Aaltonen LA. 2003. A role for mitochondrial enzymes in inherited neoplasia and beyond. Nat Rev Cancer 3:193-202.
14. Fokkema IFAC, Den Dunnen JT, Taschner PEM. 2005. LOVD: Easy creation of a locus-specific sequence variation database using an "LSDB-in-a-Box" approach. Hum Mutat 26:63-68.
15. Gimenez-Roqueplo AP, Favier J, Rustin P, Mourad JJ, Plouin PF, Corvol P, Rotig A, Jeunemaitre X. 2001. The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. Am J Hum Genet 69:1186-1197.
16. Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Kerlan V, Plouin PF, Rotig A, Jeunemaitre X. 2002. Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma. J Clin Endocrinol Metab 87: 4771-4774.
17. Gottlieb E, Tomlinson IP. 2005. Mitochondrial tumour suppressors: A genetic and biochemical update. Nat Rev Cancer 5: 857-866.
18. Hensen EF, Jordanova ES, van Minderhout IJ, Hogendoorn PC, Taschner PE, van derMey AG, Devilee P, Cornelisse CJ. 2004. Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families. Oncogene 23:4076-4083.
19. Heutink P, van der Mey AGL, Sandkuijl LA, van Gils AdPG, Bardoel A, Breedveld GJ, van Vliet M, van Ommen G-JB, Cornelisse CJ, Oostra BA, Weber JL, Devilee P. 1992. A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. Hum Mol Genet 1:7-10.
20. Hirawake H, Taniwaki M, Tamura A, Kojima S, Kita K. 1997. Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23. Cytogenet Cell Genet 79:132-138.
21. Ishii T, Yasuda K, Akatsuka A, Hino O, Hartman PS, Ishii N. 2005. A mutation in the SDHC gene of complex II increases oxidative stress, resulting in apoptosis and tumorigenesis. Cancer Res 65:203-209.
22. Kimura M, Abe T, Sunamura M, Matsuno S, Horii A. 1996. Detailed deletion mapping on chromosome arm 12q in human pancreatic adenocarcinoma: Identification of a 1-cM region of common allelic loss. Genes Chromosomes Cancer 17:88-93.
23. Lack EE, Cubilla AL, Woodruff JM. 1979. Paragangliomas of the head and neck region. A pathologic study of tumors from 71 patients. Hum Pathol 10:191-218.
24. McCaffrey TV, Meyer FB, Michels W, Piepgras DG, Marion MS. 1994. Familial paragangliomas of the head and neck. Arch Otolaryngol Head Neck Surg 120:1211-1216.
25. McDonnell CM, Benn DE, Marsh DJ, Robinson BG, Zacharin MR. 2004. K40E: A novel succinate dehydrogenase (SDH) B mutation causing familial phaeochromocytoma and paraganglioma. Clin Endocrinol 61:510-514.
26. Mhatre AN, Li Y, Feng L, Gasperin A, Lalwani AK. 2004. SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas. Clin Genet 66:461-466.
27. Milunsky JM, Maher TA, Michels W, Milunsky A. 2001. Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet 100:311-314.
28. Muller U, Troidl C, Niemann S. 2005. SDHC mutations in hereditary paraganglioma/pheochromocytoma. Fam Cancer 4:9-12.
29. Nakamura K, Yamaki M, Sarada M, Nakayama S, Vibat CR, Gennis RB, Nakayashiki T, Inokuchi H, Kojima S, Kita K. 1996. Two hydrophobic subunits are essential for the heme b ligation and functional assembly of complex II (succinate-ubiquinone oxidoreductase) from Escherichia coli. J Biol Chem 271:521-527.
30. 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, European-American Paraganglioma Study Group. 2004. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 292:943-951.
31. Parkin JL. 1981. Familial multiple glomus tumors and pheochromocytomas, Ann Otol Rhinol Laryngol 90:60-63.
32. Pawlu C, Bausch B, Neumann HP. 2005. Mutations of the SDHB and SDHD genes. Fam Cancer 4:49-54.
33. Renard L, Goldfraind C, Boon LM, Vikkula M. 2003. A novel mutation in the SDHD gene in a family with inherited paragangliomas-implications of genetic diagnosis for follow up and treatment. Head Neck 25:146-151.
34. Sakurada A, Suzuki A, Sato M, Yamakawa H, Orikasa K, Uyeno S, Ono T, Ohuchi N, Fujimura S, Horii A. 1997. Infrequent genetic alterations of the PTEN/MMAC1 gene in Japanese patients with primary cancers of the breast, lung, pancreas, kidney, and ovary. Jpn J Cancer Res 88:1025-1028.
35. Sambrook J, Fritsch EF, Maniatis T. 1989. Molecular cloning: A laboratory manual (2nd ed.). Cold Spring Harbor: Cold Spring Harbor Laboratory Press.
36. Selak MA, Armour SM, MacKenzie ED, Boulahbel H, Watson DG, Mansfield KD, Pan Y, Simon MC, Thompson CB, Gottlieb E. 2005. Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase. Cancer Cell 7: 77-85.
37. Urquhart AC, Johnson JT, Myers EN, Schechter GL. 1994. Glomus vagale: Paraganglioma of the vagus nerve. Laryngoscope 104: 440-445.
38. van der Mey AG, Maaswinkel-Mooy PD, Cornelisse CJ, Schmidt PH, van de Kamp JJ. 1989. Genomic imprinting in hereditary glomus tumours: Evidence for new genetic theory. Lancet 2: 1291-1294.
39. van Schothorst EM, Jansen JC, Bardoel AF, van der Mey AG, James MJ, Sobol H, Weissenbach J, van Ommen GJ, Cornelisse CJ, Devilee P. 1996. Confinement of PGL, an imprinted gene causing hereditary paragangliomas, to a 2-cM interval on 11q22-q23 and exclusion of DRD2 and NCAM as candidate genes. Eur J Hum Genet 4:267-273.
40. Velasco A, Palomar-Asenjo V, Ganan L, Catasus L, Llecha N, Panizo A, Palomar-Garcia V, Quer M, Matias-Guiu X. 2005. Mutation analysis of the SDHD gene in four kindreds with familial paraganglioma: Description of one novel germline mutation. Diagn Mol Pathol 14:109-114.
41. Xu S, Furukawa T, Kanai N, Sunamura M, Horii A. 2005. Abrogation of DUSP6 by hypermethylation in human pancreatic cancer. J Hum Genet 50:159-167.