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Volumn 25, Issue 2, 2003, Pages 146-151

A novel mutation in the SDHD gene in a family with inherited paragangliomas - Implications of genetic diagnosis for follow up and treatment

Author keywords

Familial; Genetic; Paraganglioma; Pheochromocytoma; Screening

Indexed keywords

SUCCINATE DEHYDROGENASE;

EID: 0037307412     PISSN: 10433074     EISSN: None     Source Type: Journal    
DOI: 10.1002/hed.10220     Document Type: Article
Times cited : (40)

References (28)
  • 1
    • 0002921028 scopus 로고
    • Hereditary deficiencies of clotting factors VII and X associated with carotid-body tumors
    • Kroll AJ, Alexander B, Cochios F, Pechet L. Hereditary deficiencies of clotting factors VII and X associated with carotid-body tumors. N Engl J Med 1964;270:6-13.
    • (1964) N Engl J Med , vol.270 , pp. 6-13
    • Kroll, A.J.1    Alexander, B.2    Cochios, F.3    Pechet, L.4
  • 3
    • 0026849378 scopus 로고
    • A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter
    • Heutink P, van der Mey AG, Sandkuijl LA, et al. A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. Hum Mol Genet 1992;1:7-10.
    • (1992) Hum Mol Genet , vol.1 , pp. 7-10
    • Heutink, P.1    Van der Mey, A.G.2    Sandkuijl, L.A.3
  • 4
    • 0028809123 scopus 로고
    • Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: Evidence for genetic heterogeneity
    • Mariman EC, van Beersum SE, Cremers CW, Struycken PM, Ropers HH. Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity. Hum Genet 1995;95:56-62.
    • (1995) Hum Genet , vol.95 , pp. 56-62
    • Mariman, E.C.1    Van Beersum, S.E.2    Cremers, C.W.3    Struycken, P.M.4    Ropers, H.H.5
  • 5
    • 0034671551 scopus 로고    scopus 로고
    • Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma
    • Gimm O, Armanios M, Dziema H, Neumann HP, Eng C. Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. Cancer Res 2000;60:6822-25.
    • (2000) Cancer Res , vol.60 , pp. 6822-6825
    • Gimm, O.1    Armanios, M.2    Dziema, H.3    Neumann, H.P.4    Eng, C.5
  • 6
    • 0035857957 scopus 로고    scopus 로고
    • Germline SDHD mutation in familial phaeochromocytoma
    • Astuti D, Douglas F, Lennard TW, et al. Germline SDHD mutation in familial phaeochromocytoma. Lancet 2001; 357:1181-1182.
    • (2001) Lancet , vol.357 , pp. 1181-1182
    • Astuti, D.1    Douglas, F.2    Lennard, T.W.3
  • 7
    • 0034964421 scopus 로고    scopus 로고
    • Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma
    • 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.
    • (2001) Am J Hum Genet , vol.69 , pp. 49-54
    • Astuti, D.1    Latif, F.2    Dallol, A.3
  • 8
    • 0031872432 scopus 로고    scopus 로고
    • Current trends in the detection and management of carotid body tumors
    • Westerband A, Hunter GC, Cintora I, et al. Current trends in the detection and management of carotid body tumors. J Vasc Surg 1998;28:84-92; discussion 92-93.
    • (1998) J Vasc Surg , vol.28 , pp. 84-92
    • Westerband, A.1    Hunter, G.C.2    Cintora, I.3
  • 9
    • 0034602950 scopus 로고    scopus 로고
    • Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
    • 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.
    • (2000) Science , vol.287 , pp. 848-851
    • Baysal, B.E.1    Ferrell, R.E.2    Willett-Brozick, J.E.3
  • 10
    • 0033358664 scopus 로고    scopus 로고
    • A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p2l-22
    • Boon LM, Brouillard P, Irrthum A, et al. A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p2l-22. Am J Hum Genet 1999; 65:125-133.
    • (1999) Am J Hum Genet , vol.65 , pp. 125-133
    • Boon, L.M.1    Brouillard, P.2    Irrthum, A.3
  • 11
    • 0035213138 scopus 로고    scopus 로고
    • 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
    • Gimenez-Roqueplo AP, Favier J, Rustin P, et al. 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 2001;69:1186-1197.
    • (2001) Am J Hum Genet , vol.69 , pp. 1186-1197
    • Gimenez-Roqueplo, A.P.1    Favier, J.2    Rustin, P.3
  • 12
    • 0034998621 scopus 로고    scopus 로고
    • Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene
    • Taschner PE, 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.
    • (2001) Genes Chromosomes Cancer , vol.31 , pp. 274-281
    • Taschner, P.E.1    Jansen, J.C.2    Baysal, B.E.3
  • 13
    • 0033767445 scopus 로고    scopus 로고
    • Mutations in SDHC cause autosomal dominant paraganglioma, type 3
    • Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 2000;26: 268-270.
    • (2000) Nat Genet , vol.26 , pp. 268-270
    • Niemann, S.1    Muller, U.2
  • 14
    • 0027190801 scopus 로고
    • Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q
    • Mariman EC, van Beersum SE, Cremers CW, van Baars FM, Ropers HH. Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q. Hum Genet 1993;91:357-361.
    • (1993) Hum Genet , vol.91 , pp. 357-361
    • Mariman, E.C.1    Van Beersum, S.E.2    Cremers, C.W.3    Van Baars, F.M.4    Ropers, H.H.5
  • 15
    • 0019968970 scopus 로고
    • Carotid body tumors in humans: Genetics and epidemiology
    • Parry DM, Li FP, Strong LC, et al. Carotid body tumors in humans: genetics and epidemiology. J Natl Cancer Inst 1982;68:573-578.
    • (1982) J Natl Cancer Inst , vol.68 , pp. 573-578
    • Parry, D.M.1    Li, F.P.2    Strong, L.C.3
  • 17
    • 0025306336 scopus 로고
    • Familial multiple cervical paragangliomas: Report of a kindred and review of the literature
    • Sobol SM, Dailey JC. Familial multiple cervical paragangliomas: report of a kindred and review of the literature. Otolaryngol Head Neck Surg 1990;102:382-390.
    • (1990) Otolaryngol Head Neck Surg , vol.102 , pp. 382-390
    • Sobol, S.M.1    Dailey, J.C.2
  • 18
    • 0034790472 scopus 로고    scopus 로고
    • Proportion of heritable paraganglioma cases and associated clinical characteristics
    • Drovdlic CM, Myers EN, Peters JA, et al. Proportion of heritable paraganglioma cases and associated clinical characteristics. Laryngoscope 2001;111:1822-1827.
    • (2001) Laryngoscope , vol.111 , pp. 1822-1827
    • Drovdlic, C.M.1    Myers, E.N.2    Peters, J.A.3
  • 19
    • 0035045284 scopus 로고    scopus 로고
    • Definitive radiotherapy in the management of chemodectomas arising in the temporal bone, carotid body, and glomus vagale
    • Hinerman RW, Mendenhall WM, Amdur RJ, Stringer SP, Antonelli PJ, Cassisi NJ. Definitive radiotherapy in the management of chemodectomas arising in the temporal bone, carotid body, and glomus vagale. Head Neck 2001; 23:363-371.
    • (2001) Head Neck , vol.23 , pp. 363-371
    • Hinerman, R.W.1    Mendenhall, W.M.2    Amdur, R.J.3    Stringer, S.P.4    Antonelli, P.J.5    Cassisi, N.J.6
  • 20
    • 16944363233 scopus 로고    scopus 로고
    • Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23
    • Baysal BE, Farr JE, Rubinstein WS, et al. Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23. Am J Hum Genet 1997; 60:121-132.
    • (1997) Am J Hum Genet , vol.60 , pp. 121-132
    • Baysal, B.E.1    Farr, J.E.2    Rubinstein, W.S.3
  • 22
    • 0035181701 scopus 로고    scopus 로고
    • Benign paragangliomas: Clinical presentation and treatment outcomes in 236 patients
    • Erickson D, Kudva YC, Ebersold MJ, et al. Benign paragangliomas: clinical presentation and treatment outcomes in 236 patients. J Clin Endocrinol Metab 2001;86: 5210-5216.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 5210-5216
    • Erickson, D.1    Kudva, Y.C.2    Ebersold, M.J.3
  • 23
    • 0014136907 scopus 로고
    • Carotid body tumors: A thirty years experience at Memorial Hospital
    • Farr H. Carotid body tumors: a thirty years experience at Memorial Hospital. Am J Surg 1967;114:614-619.
    • (1967) Am J Surg , vol.114 , pp. 614-619
    • Farr, H.1
  • 25
    • 0031594621 scopus 로고    scopus 로고
    • 111Indium pentetreotide scan detection of familial paragangliomas
    • Myssiorek D, Palestro CJ. 111Indium pentetreotide scan detection of familial paragangliomas. Laryngoscope 1998; 108:228-231.
    • (1998) Laryngoscope , vol.108 , pp. 228-231
    • Myssiorek, D.1    Palestro, C.J.2
  • 26
    • 17944379213 scopus 로고    scopus 로고
    • Germline SDHD mutation in paraganglioma of the spinal cord
    • Masuoka J, Brandner S, Paulus W, et al. Germline SDHD mutation in paraganglioma of the spinal cord. Oncogene 2001;20:5084-5086.
    • (2001) Oncogene , vol.20 , pp. 5084-5086
    • Masuoka, J.1    Brandner, S.2    Paulus, W.3
  • 27
    • 0035874016 scopus 로고    scopus 로고
    • Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma
    • Milunsky JM, Maher TA, Michels W, Milunsky A. Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. Am J Med Genet 2001;100:311-314.
    • (2001) Am J Med Genet , vol.100 , pp. 311-314
    • Milunsky, J.M.1    Maher, T.A.2    Michels, W.3    Milunsky, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.