Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC

Hum Genet. 2003 Jul;113(1):92-4. doi: 10.1007/s00439-003-0938-0. Epub 2003 Mar 25.

Abstract

Mutations in SDHC cause autosomal dominant paraganglioma, type 3 (PGL3), and have to date been demonstrated in only one family. Here, we report on a novel mutation in a patient with a malignant, catecholamine-producing paraganglioma at the carotid bifurcation. The mutation is a G-->T transversion at position +1 of intron 5 of the SDHC gene, leading to the deletion of exon 5 and a shift in the reading frame.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Carotid Body Tumor / genetics*
  • Carotid Body Tumor / metabolism
  • Catecholamines / metabolism*
  • Exons
  • Female
  • Genes, Dominant / genetics*
  • Humans
  • Introns
  • Magnetic Resonance Imaging
  • Membrane Proteins / genetics*
  • Mutation / genetics*
  • RNA Splice Sites / genetics*
  • Succinate Dehydrogenase / genetics*

Substances

  • Catecholamines
  • Membrane Proteins
  • RNA Splice Sites
  • SDHC protein, human
  • Succinate Dehydrogenase