Mutation in cystatin C gene causes hereditary brain haemorrhage

Lancet. 1988 Sep 10;2(8611):603-4. doi: 10.1016/s0140-6736(88)90641-1.

Abstract

Hereditary cystatin C amyloid angiopathy (HCCAA) is an autosomal dominant disorder in which a cysteine proteinase inhibitor, cystatin C, is deposited as amyloid fibrils in the cerebral arteries of patients and leads to massive brain haemorrhage and death in young adults. A full length cystatin C cDNA probe revealed a mutation in the codon for leucine at position 68 which abolishes an Alu I restriction site in the cystatin C gene of HCCAA patients. The Alu I marker has been used to show that this mutation is transmitted only in affected members of all eight families investigated, and that the mutated cystatin C gene causes HCCAA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cerebral Hemorrhage / genetics*
  • Cerebrospinal Fluid Proteins / genetics
  • Cystatin C
  • Cystatins*
  • Female
  • Genetic Markers
  • Humans
  • Male
  • Mutation*
  • Polymorphism, Restriction Fragment Length
  • Protease Inhibitors / cerebrospinal fluid
  • Protease Inhibitors / genetics*
  • Proteins / genetics*

Substances

  • CST3 protein, human
  • Cerebrospinal Fluid Proteins
  • Cystatin C
  • Cystatins
  • Genetic Markers
  • Protease Inhibitors
  • Proteins