Mutations in SDHC Cause Autosomal Dominant Paraganglioma, Type 3

Nat Genet. 2000 Nov;26(3):268-70. doi: 10.1038/81551.

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 penetrance.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 1 / genetics
  • DNA Mutational Analysis
  • DNA, Complementary / genetics
  • Electron Transport Complex II
  • Female
  • Genes, Dominant
  • Humans
  • Male
  • Membrane Proteins / deficiency
  • Membrane Proteins / genetics*
  • Membrane Proteins / physiology
  • Mitochondria / enzymology
  • Molecular Sequence Data
  • Multienzyme Complexes / chemistry
  • Multienzyme Complexes / deficiency*
  • Multienzyme Complexes / genetics
  • Mutagenesis, Site-Directed
  • Neoplastic Syndromes, Hereditary / enzymology
  • Neoplastic Syndromes, Hereditary / genetics*
  • Oxidoreductases / chemistry
  • Oxidoreductases / deficiency*
  • Oxidoreductases / genetics
  • Paraganglioma / classification
  • Paraganglioma / enzymology
  • Paraganglioma / genetics*
  • Pedigree
  • Protein Subunits
  • Succinate Dehydrogenase / chemistry
  • Succinate Dehydrogenase / deficiency*
  • Succinate Dehydrogenase / genetics

Substances

  • DNA, Complementary
  • Membrane Proteins
  • Multienzyme Complexes
  • Protein Subunits
  • SDHC protein, human
  • Oxidoreductases
  • Electron Transport Complex II
  • Succinate Dehydrogenase

Associated data

  • GENBANK/AF039589
  • GENBANK/D49737