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GENATLAS PHENOTYPE
last update : 19-06-2018
Symbol BRKS2
Location 3q24
Name Bruck syndrome 2
Corresponding gene PLOD2
Main clinical features
  • characterized by osteoporosis, fragile bones with congenital contractures of the large joints and short stature associated
  • congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis
    • Genetic determination autosomal recessive
    Related entries including mixed Ehlers-Danlos syndrome
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     homozygous mutations in a hot-spot adjacent to Gly601Val
    missense   abnormal protein/loss of function R594H, G597V and T604I missense utations show a reduced enzymatic activity; and changes in folding and oligomerization (Hyry 2009)
    Remark(s)