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GENATLAS PHENOTYPE
last update : 3/07/2006
Symbol GCX
Location Xp22.33
Name growth control region, pseudoautosomal
Corresponding gene SHOX
Other symbol(s) GCRX
Main clinical features
  • involved in some idiopatic short stature, linear growth deficiency
  • maybe also involved in short and dysmorphic skeletal features in Turner syndrome (interaction with oestrogen is responsible of premature fusion of growth plate because of haploinsufficiency of SHOX)
    • Genetic determination sex linked
    Function/system disorder
    Type QTL
    Gene product
    Name short stature homeo box containing gene (SHOX)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   haploinsufficiency proximal deletion breakpoint, leading to short arms in 92p100, bilateral Madelung deformity in 73p100 and short stature in 54p100
    Remark(s)