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GENATLAS PHENOTYPE
last update : 29-09-2011
Symbol EDSL1
Location 6p21.3
Name Ehlers-Danlos-like syndrome, type 1
Corresponding gene TNXB
Main clinical features
  • characterized by hypermobile joints, patellar chondromalacia, hyperextensive skin and easy bruising without atrophic scarring
  • associated with tenascin X defect in a patient with adrenal hyperplasia and CYP21 defect
    • Genetic determination autosomal recessive
    Function/system disorder connective tissue
    Type disease
    Gene product
    Name tenascin XA/XB hybrid, associated in a patient removing C4B and CYP21A2, also short deletions and truncating point mutations
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   haploinsufficiency  
    Remark(s) . V1195M mutation at the 7th fibronectin Type III domain (TNXfn7), significantly alters the flexibility of the C'E loop of TNXfn7, which may affect the binding of TNX to ECM molecules and thus adversely affect collagen deposition and fibrillogenesis (PMID: 20853426))