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GENATLAS PHENOTYPE
last update : 14-09-2016
Symbol CAAG
Location 9q33.3
Name cerebral amyloid angiopathy, GSN-related
Other name(s)
  • amyloidosis V
  • amyloidosis cranial neuropathy with lattice corneal dystrophy
  • familial amyloid polyneuropathy IV
    • Corresponding gene GSN
    Other symbol(s) FAP4
    Main clinical features
  • lattice corneal dystrophy, Finnish type, onset in the third to fifth decade,
  • associated with cranial neuropathy, skin elasticity problems, leading to renal failure
    • Genetic determination autosomal dominant
    Function/system disorder connective tissue
    eye
    Type disease
    Gene product
    Name gelsolin
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown     mutation D187 or D187Y producing an aberrant protease sensitive molecule, leading to destabilisation of domain D that associates into amyloid fibrils
    Remark(s) G2 Ca-binding site is mutated in gelsolin from familial amyloidosis (Finnish-type) patients (Nag 2009)