Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas

Journal of Medical Genetics

Volumn 39, Issue 3, 2002, Pages 178-183

  Baysal, B E ^a   Willett Brozick, J E ^a   Lawrence, E C ^a   Drovdlic, C M ^a   Savul, S A ^a   McLeod, D R ^b   Yee, H A ^b   Brackmann, D E ^c   Slattery III, W H ^c   Myers, E N ^a   Ferrell, R E ^a   Rubinstein, W S ^a,d  

^a UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

^b CALGARY HEALTH REGION   (Canada)

^c HOUSE EAR INSTITUTE   (United States)

^d UNIVERSITY OF PITTSBURGH CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN SDHB; PROTEIN SDHC; PROTEIN SDHD; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE AMPLIFICATION; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GERM LINE; HAPLOTYPE; HEAD AND NECK TUMOR; HUMAN; MALE; MITOCHONDRION; NEUROECTODERM TUMOR; NUCLEOTIDE SEQUENCE; PARAGANGLIOMA; PREVALENCE; PRIORITY JOURNAL;

EID: 18344381765     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.39.3.178     Document Type: Article

References (26)

1. Anatomy and physiology of peripheral arterial chemoreceptors
2. Carotid body paragangliomas
3. Chief cell hyperplasia in the human carotid body at high altitudes; physiologic and pathologic significance
4. Hyperplasia of vagal and corotid body paraganglia in patients with chronic hypoxemia
5. A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromasome 11q23-qter
6. Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma
7. Gene mutations in the succinate dehydrogenase subunit sdhb cause susceptibility to familial pheochromocytoma and to familial paraganglioma
8. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
9. Mutations in SDHC cause autosomal dominant paraganglioma, type 3
10. Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q
11. Genomic imprinting in hereditary glomus tumours: Evidence for new genetic theory
12. Familial carotid body tumors: Case report and epidemiologic review
13. Proportion of heritable PGL cases and associated clinical characteristics
14. Nearly all hereditary paragangliomas in The Netherlands are caused by two founder mutations in the SDHD gene
15. Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma
16. Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23
17. Repositioning the hereditary paraganglioma critical region on chromosome band 11q23
18. A high-resolution integrated map spanning the SDHD gene at 11q23: A 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region
19. Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma
20. Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss
21. Genetic heterogeneity in hereditary paraganglioma (PGL): SDHD is the primary locus in imprinted PGL pedigrees
22. Further localization of the gene for hereditary paragangliomas (PGL), and evidence for linkage in unrelated families
23. Confinement of PGL, and imprinted gene causing hereditary paragangliomas, to a 2-cM interval on 11q22-23 and exclusion of DRD2 and NCAM as candidate genes
24. Familial paragangliomas - Linkage to chromosome 11q23 and clinical implications
25. Genetic analysis in the diagnosis of familial paragangliomas