Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene

Genes Chromosomes and Cancer

Volumn 31, Issue 3, 2001, Pages 274-281

  Taschner, Peter E M ^a,c   Jansen, Jeroen C ^a   Baysal, Bora E ^b   Bosch, Anne ^a   Rosenberg, Efraim H ^a   Bröcker Vriends, Annette H J T ^a   Van Der Mey, Andel G L ^a   Van Ommen, Gert Jan B ^a   Cornelisse, Cees J ^a   Devilee, Peter ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

^c LEIDEN UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

RESTRICTION ENDONUCLEASE;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; DNA SEQUENCE; FOUNDER EFFECT; GENE MUTATION; GENETIC HETEROGENEITY; GLOMUS TUMOR; HETEROZYGOSITY LOSS; HUMAN; MAJOR CLINICAL STUDY; NETHERLANDS; NUCLEOTIDE SEQUENCE; PARAGANGLIOMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESPIRATORY CHAIN; SINGLE STRAND CONFORMATION POLYMORPHISM; TUMOR SUPPRESSOR GENE;

DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX II; FOUNDER EFFECT; GENETIC HETEROGENEITY; HEAD AND NECK NEOPLASMS; HUMANS; LOSS OF HETEROZYGOSITY; MULTIENZYME COMPLEXES; MUTATION; OXIDOREDUCTASES; PARAGANGLIOMA; SUCCINATE DEHYDROGENASE;

GLOMUS;

EID: 0034998621     PISSN: 10452257     EISSN: None     Source Type: Journal    
DOI: 10.1002/gcc.1144     Document Type: Article

References (24)

1. Repositioning the hereditary paraganglioma critical region on chromosome band 11q23
2. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
3. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
4. Rearranged mitochondrial genomes are present in human oocytes
5. Allelotype of head and neck paragangliomas: Allelic imbalance is confined to the long arm of chromosome 11, the site of the predisposing locus PGL
6. A comprehensive genetic map of the human genome based on 5,264 microsatellites
7. The distribution of charged amino acids in mitochondrial inner-membrane proteins suggests different modes of membrane integration for nuclearly and mitochondrially encoded proteins
8. Familial carotid body tumors: Case report and epidemiologic review
9. A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter
10. Further localization of the gene for hereditary paragangliomas and evidence for linkage in unrelated families
11. Paragangliomas of the head and neck region: A pathologic study of tumors from 71 patients
12. Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q
13. Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: Evidence for genetic heterogeneity
14. A simple salting out procedure for extracting DNA from human nucleated cells
15. Imprinting in Prader Willi and Angelman syndromes
16. Mutations in SDHC cause autosomal dominant paraganglioma, type 3
17. PGL3, a third, not maternally imprinted locus in autosomal dominant paraganglioma
18. First experiences with genetic counselling based on, predictive DNA diagnosis in hereditary glomus tumours (paragangliomas)
19. Amounts of mitochondrial DNA and abundance of some mitochondrial gene transcripts in early mouse embryos
20. Human mitochondrial complex I in health and disease
21. Genomic imprinting in hereditary, glomus tumours: Evidence for new genetic theory
22. 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
23. Founder effect at PGL1 in hereditary head and neck paraganglioma families from The Netherlands
24. 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