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Mutations in SDHC cause autosomal dominant paraganglioma, type 3

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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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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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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