The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Nearly all hereditary paragangliomas in The Netherlands are caused by two founder mutations in the SDHD gene
Abstract
Hereditary paragangliomas or glomus tumors are usually benign slow‐growing tumors in the head and neck region. The inheritance pattern of hereditary paraganglioma is autosomal dominant with imprinting. Recently, we have identified the SDHD gene encoding subunit D of the mitochondrial respiratory chain complex II as one of the genes involved in hereditary paragangliomas. Here, we demonstrate that two founder mutations, Asp92Tyr and Leu139Pro, are responsible for paragangliomas in 24 and 6 of the 32 independently ascertained Dutch paraganglioma families, respectively. These two mutations were also detected among 20 of 55 isolated patients. Ten of the isolated patients had multiple paragangliomas, and in eight of these SDHD germline mutations were found, indicating that multicentricity is a strong predictive factor for the hereditary nature of the disorder in isolated patients. In addition, we demonstrate that the maternally derived wild‐type SDHD allele is lost in tumors from mutation‐carrying patients, indicating that SDHD functions as a tumor suppressor gene. © 2001 Wiley‐Liss, Inc.
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Cites
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-citationBourgeron, T., Rustin, P., Chretien, D., Birch-Machin, M., Bourgeois, M., Viegas-Péquignot, E., Munnich, A., & Rötig, A. (1995) · Nature Genetics · doi:10.1038/ng1095-144 · Cited by 730 · cited 1×
“Previously, only seven mutations have been detected in five of the complex I (NADH: ubiquinone oxidoreductase) genes (Smeitink and van den Heuvel, 1999) and one in the SDHA gene that encodes the flavoprotein subunit of complex II (succinate: ubiquinone oxidoreductase) (Bourgeron et al., 1995).”
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Cited by
Neumann, H. P. H. (2004) · JAMA · doi:10.1001/jama.292.8.943 · Cited by 893
Crystal Structure of Mitochondrial Respiratory Membrane Protein Complex II
Sun, F., Huo, X., Zhai, Y., Wang, A., Xu, J., Su, D., Bartlam, M., & Rao, Z. (2005) · Cell · doi:10.1016/j.cell.2005.05.025 · Cited by 881
Janeway, K. A., Kim, S. Y., Lodish, M., Nosé, V., Rustin, P., Gaal, J., Dahia, P. L. M., Liegl, B., Ball, E. R., Raygada, M., et al. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1009199108 · Cited by 628
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
Baysal, B. E., Willett-Brozick, J. E., Lawrence, E. C., Drovdlic, C. M., Savul, S. A., McLeod, D. R., Yee, H. A., Brackmann, D. E., Slattery, W. H., Myers, E. N., et al. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.3.178 · Cited by 339
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Metadata
- Authors
- Taschner, P. E. M., Jansen, J. C., Baysal, B. E., Bosch, A., Rosenberg, E. H., Bröcker‐Vriends, A. H. J. T., van der Mey, A. G. L., van Ommen, G. B., Cornelisse, C. J., & Devilee, P.
- Venue
- Genes, Chromosomes and Cancer
- Publisher
- Wiley
- Published
- 2001-05-30
- Volume
- 31
- Issue
- 3
- Pages
- 274-281
- ISSN
- 1045-2257 (ISSN-L)
- 1098-2264
- OpenAlex
- W1983915250
- Cited by
- 165
- References
- 2
- FWCI
- 13.97
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Nearly all hereditary paragangliomas in The Netherlands are caused by two founder mutations in the SDHD gene. https://app.cochat.ai/papers/10.1002/gcc.1144
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- Taschner, P. E. M., Jansen, J. C., Baysal, B. E., Bosch, A., Rosenberg, E. H., Bröcker‐Vriends, A. H. J. T., van der Mey, A. G. L., van Ommen, G. B., Cornelisse, C. J., & Devilee, P. (2001). Nearly all hereditary paragangliomas in The Netherlands are caused by two founder mutations in the SDHD gene. Genes, Chromosomes and Cancer. https://doi.org/10.1002/gcc.1144
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