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A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter
Abstract
Paragangliomas of the head and neck are slow growing tumors which rarely show malignant progression. Familial transmission has been described consistent with an autosomal dominant mode of inheritance. Clinical manifestations of hereditary paragangliomas are determined by the sex of the transmitting parent. All affected individuals have inherited the disease gene from their father, expression of the phenotype is not observed in the offspring of an affected female until subsequent transmittance of the gene through a male carrier. This finding strongly suggests that genomic imprinting is involved. We report the results of a linkage study on a large Dutch pedigree with hereditary paragangliomas. Highly significant evidence for genetic linkage to chromosome 11q23-qter with the anonymous DNA marker D11S147 was detected with a peak lod score of 6.0 at a recombination fraction theta = 0.0. Likelihood calculations yielded an odds ratio of 2.7 x 10(6) in favor of genomic imprinting versus the absence of genomic imprinting.
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Cited by
Mutations in SDHD , a Mitochondrial Complex II Gene, in Hereditary Paraganglioma
Baysal, B. E., Ferrell, R. E., Willett-Brozick, J. E., Lawrence, E. C., Myssiorek, D., Bosch, A., Mey, A. V. D., Taschner, P. E. M., Rubinstein, W. S., Myers, E. N., et al. (2000) · Science · doi:10.1126/science.287.5454.848 · Cited by 1,638
Self-citationGerm-Line Mutations in Nonsyndromic Pheochromocytoma
Neumann, H. P. H., Bausch, B., McWhinney, S. R., Bender, B. U., Gimm, O., Franke, G., Schipper, J., Klisch, J., Altehoefer, C., Zerres, K., et al. (2002) · New England Journal of Medicine · doi:10.1056/nejmoa020152 · Cited by 1,367
Neumann, H. P. H. (2004) · JAMA · doi:10.1001/jama.292.8.943 · Cited by 893
Mutations in SDHC cause autosomal dominant paraganglioma, type 3
Niemann, S., & Müller, U. (2000) · Nature Genetics · doi:10.1038/81551 · Cited by 875
Bardella, C., Pollard, P. J., & Tomlinson, I. (2011) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2011.07.003 · Cited by 395
Metadata
- Authors
- Heutink, P., Mey, A. G. L. V. D., Sandkuijl, L. A., Gils, A. P. G. V., Bardoel, A., Breedveld, G. J., Vliet, M. V., Ommen, G.-J. B. V., Cornelisse, C. J., Oostra, B. A., Weber, J. L., & Devilee, P.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1992
- Volume
- 1
- Issue
- 1
- Pages
- 7-10
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2121866070
- Cited by
- 214
- References
- 0
- FWCI
- 14.75
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. https://app.cochat.ai/papers/10.1093/hmg/1.1.7
- The paper
- Heutink, P., Mey, A. G. L. V. D., Sandkuijl, L. A., Gils, A. P. G. V., Bardoel, A., Breedveld, G. J., Vliet, M. V., Ommen, G.-J. B. V., Cornelisse, C. J., Oostra, B. A., Weber, J. L., & Devilee, P. (1992). A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. Human Molecular Genetics. https://doi.org/10.1093/hmg/1.1.7
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