SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas

Clinical Genetics

Volumn 66, Issue 5, 2004, Pages 461-466

  Mhatre, A N ^a   Li, Y ^a,b   Feng, L ^a   Gasperin, A ^a,b   Lalwani, Anil K ^a  

^a NEW YORK UNIVERSITY   (United States)

^b FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

Author keywords

Hereditary paraganglioma; Sporadic paraganglioma; Succinate dehydrogenase

Indexed keywords

ADENINE; CYTOSINE; GUANINE; LEUCINE; NUCLEOTIDE; PROLINE; SERINE; SUCCINATE DEHYDROGENASE;

AMINO ACID SUBSTITUTION; ARTICLE; BASE PAIRING; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; FAMILIAL DISEASE; GENE DELETION; GENE MUTATION; GENETIC CODE; GENETIC IDENTIFICATION; GENETIC SCREENING; GERM LINE; HEAD AND NECK TUMOR; HUMAN; HUMAN CELL; HUMAN TISSUE; NUCLEIC ACID BASE SUBSTITUTION; PARAGANGLIOMA; PRIORITY JOURNAL; SOMATIC MUTATION;

AMINO ACID SEQUENCE; DNA MUTATIONAL ANALYSIS; GENETIC SCREENING; GERM-LINE MUTATION; HEAD AND NECK NEOPLASMS; HUMANS; IRON-SULFUR PROTEINS; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; PARAGANGLIOMA; PEDIGREE; PROTEIN SUBUNITS; SEQUENCE ALIGNMENT; SUCCINATE DEHYDROGENASE;

EID: 7244256010     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2004.00328.x     Document Type: Article

References (22)

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: 848-51.
3. Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 2000: 26: 268-70.
4. Baysal BE. On the association of succinate dehydrogenase mutations with hereditary paraganglioma. Trends Endocrinol Metab 2003: 14: 453-9.
5. Baysal BE, Myers EN. Etiopathogenesis and clinical presentation of carotid body tumors. Microsc Res Tech 2002: 59: 256-61.
6. Ackrell BA. Cytopathies involving mitochondrial complex II. Mol Aspects Med 2002: 23: 369-84.
7. van Schothorst EM, Beekman M, Torremans P et al. Paragangliomas of the head and neck region show complete loss of heterozygosity at 11q22-q23 in chief cells and the flow-sorted DNA aneuploid fraction. Hum Pathol 1998:
8. Li Y, Bollag G, Clark R et al. Somatic mutations in the neurofibromatosis 1 gene in human tumors. Cell 1992: 69: 275-81.
9. Serra E, Puig S, Otero D et al. Confirmation of a double-hit model for the NF1 gene in benign neurofibromas. Am J Hum Genet 1997: 61: 512-9.
10. Bikhazi PH, Roeder E, Attaie A, Lalwani AK. Familial paragangliomas: the emerging impact of molecular genetics on evaluation and management. Am J Otol 1999: 20: 639-43.
11. Astuti D, Hart-Holden N, Latif F et al. Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility. Clin Endocrinol (Oxf) 2003: 59: 728-33.
12. Bauters C, Vantyghem MC, Leteurtre E, et al. Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes. J Med Genet 2003: 40: e75.
13. 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: 2061-6.
14. Baysal BE, Willett-Brozick JE Lawrence EC et al. Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. J Med Genet 2002: 39: 178-83.
15. Astrom K, Cohen JE, Willett-Brozick JE, Aston CE, Baysal BE. Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. Hum Genet 2003: 113: 228-37.
16. Perren A, Barghorn A, Schmid S et al. Absence of somatic SDHD mutations in sporadic neuroendocrine tumors and detection of two germline variants in paraganglioma patients. Oncogene 2002: 21: 7605-8.
17. 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: 6822-5.
18. Iverson TM, Luna-Chavez C, Cecchini G, Rees DC. Structure of the Escherichia coli fumarate reductase respiratory complex. Science 1999: 284: 1961-6.
19. Lancaster CR, Kroger A. Succinate: quitione oxidoreductases: new insights from X-ray crystal structures. Biochim Biophys Acta 2000: 1459: 422-31.
20. Kowal AT, Werth MT, Manodori A et al. Effect of cysteine to serine mutations on the properties of the [4Fe-4S] center in Escherichia coli fumarate reductase. Biochemistry 1995: 34: 12284-93.
21. Manodori A, Cecchini G, Schroder I, Gunsalus RP, Werth MT, Johnson MK. [3Fe-4S] to [4Fe-4S] cluster conversion in Escherichia coli fumarate reductase by site-directed mutagenesis. Biochemistry 1992: 31: 2703-12.
22. Benn DE, Croxson MS, Tucker K et al. Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas. Oncogene 2003: 22: 1358-64.