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Mutations in SDHC cause autosomal dominant paraganglioma, type 3

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Abstract

Nonchromaffin paragangliomas (PGLs) are usually benign, neural-crest–derived, slow-growing tumours of parasympathetic ganglia. Between 10% and 50% of cases are familial and are transmitted as autosomal dominant traits with incomplete and age-dependent penetrance1,2.

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Figure 1: Mutation analysis of SDHC in a PGL3 family.
Figure 2: LOH analyses in constitutive and tumour DNA of II.6 at four loci on 1q: D1S506, D1S484, APOA2 and D1S2640 (centromere to telomere).

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References

  1. Grufferman, S., Gillman, M.W., Pasternak, L.R., Peterson, C.L. & Young, W.G. Cancer 46, 2116–2122 (1980).

    Article  CAS  Google Scholar 

  2. Van der Mey, A.G.L., Maaswinkel-Mooy, P.D., Cornelisse, C.J., Schmidt, P.H. & van de Kamp, J.J.P. Lancet 2, 1291–1294 (1989).

    Article  CAS  Google Scholar 

  3. Heutink, P. et al. Hum. Mol. Genet. 1, 7–10 (1992).

    Article  CAS  Google Scholar 

  4. Baysal, B.E. et al. Hum. Genet. 104, 219–225 (1999).

    Article  CAS  Google Scholar 

  5. Mariman, E.C.M., van Beersum, S.E.C., Cremers, C.W.R.J., Struycken, P.M. & Ropers, H.H. Hum. Genet. 95, 56–62 (1995).

    Article  CAS  Google Scholar 

  6. Niemann, S., Steinberger, D. & Müller, U. Neurogenetics 2, 167–170 (1999).

    Article  CAS  Google Scholar 

  7. Baysal, B.E. et al. Science 287, 848–851 (2000).

    Article  CAS  Google Scholar 

  8. Hirawake, H., Taniwaki, M., Tamura, A., Kojima, S. & Kita, K. Cytogenet. Cell Genet. 79, 132–138 (1997).

    Article  CAS  Google Scholar 

Download references

Acknowledgements

We thank members of the family for participation; J. Zimmer and A. Köhler for transforming and culturing of patient cells; and K. Altland for help with densitometry. Patient II.6 was operated on by H. Glanz. This work was supported by the Bundesministerium für Forschung und Bildung (Förderkennzeichen: 01GI9999).

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  1. Institut für Humangenetik, Justus-Liebig-Universität, Giessen, Germany

    Stephan Niemann & Ulrich Müller

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  1. Stephan Niemann
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  2. Ulrich Müller
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Correspondence to Ulrich Müller.

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Niemann, S., Müller, U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 26, 268–270 (2000). https://doi.org/10.1038/81551

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