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GENATLAS PHENOTYPE
last update : 29/01/07
Symbol OIEDS
Location 17q21.33
Name osteogenesis imperfecta with Ehlers-Danlos syndrome
Corresponding gene COL1A1
Main clinical features
  • bone fragility, growth deficiency, and blue sclerae, mild form, associated to symptoms of EDS , bilateral hip dislocations and marked laxity of large joints, shoulder joint dislocations, hernias and scoliosis
    • Genetic determination autosomal dominant
    Function/system disorder connective tissue
    osteo-articular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown     disrupting a distinct folding region of high thermal stability in the first 90 AA at the amino end of type I collagen and altering the secondary structure of the adjacent N-proteinase cleavage site, with retained N-propeptides in the fibrils and modification of the accessibility to cleavage by tissue protease
    Remark(s)