Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 02-07-2014
Symbol COSS
Location 13q34
Name COL4A1 stroke syndrome
Corresponding gene COL4A1 , COL1A2
Main clinical features
  • spectrum of cerebral small-vessel disease, including perinatal intracerebral hemorrhage (ICH) with consequent porencephaly, adult-onset ICH, microbleeds, lacunar strokes, white matter disease and leukoaraiosis
  • in neonates, possible hemolytic disease with jaundice (PMID: 24861536))
    • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   haploinsufficiency haploinsufficiency, for COL4A1 mutations is a cause of (antenatal) intracerebral hemorrhage and white matter disease (PMID: 23065703)
    Remark(s)
  • mutations replacing a highly conserved hydrophobic glycine residue likely lead to synthesis of an abnormal protein with abnormal structure and inhibit heterotrimer secretion into the vascular basement membrane, modify its structural properties, and, thus, increase the fragility of the vessel wall when exposed to environmental factors (PMID: 20166936))