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GENATLAS PHENOTYPE
last update : 19-04-2010
Symbol SJS1
Location 1p36.12
Name Schwartz-Jampel syndrome, type 1
Other name(s)
  • chondrodystrophic myotonia
  • myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities
    • Corresponding gene HSPG2
    Main clinical features
  • progressive disorder characterized by short stature, myotonic myopathy, dystrophy of epiphyseal cartilages, joint contractures, blepharophimosis, unusual pinnae, myopia, and pigeon breast
  • general anesthesia was hazardous because of a propensity to malignant hyperthermia, and endotracheal intubation was difficult because of shortness and rigidity of the neck and the small size of the laryngeal structures
    • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    congenital malformation
    neuromuscular
    Type disease
    Gene product
    Name perlecan, heparan sulfate proteoglycan 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   truncated protein involving cysteine residues led to intracellular retention of perlecan, probably due to quality control pathways
    abnormal splicing   truncated protein  
    Remark(s)