Mutation in cystatin C gene causes hereditary brain haemorrhage.
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.
D002543:Cerebral Hemorrhage / Q000235:genetics*; D002556:Cerebrospinal Fluid Proteins / Q000235:genetics; D055316:Cystatin C; D015891:Cystatins; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D011480:Protease Inhibitors / Q000134:cerebrospinal fluid / Q000235:genetics*; D011506:Proteins / Q000235:genetics*
C525030:CST3 protein, human; D002556:Cerebrospinal Fluid Proteins; D055316:Cystatin C; D015891:Cystatins; D005819:Genetic Markers; D011480:Protease Inhibitors; D011506:Proteins