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GENATLAS PHENOTYPE
last update : 14/11/2008
Symbol CCD
Location 6p21.1
Name cleidocranial dysplasia
Corresponding gene RUNX2
Main clinical features
  • generalized skeletal disorder including clavicular aplasia or hypoplasia, large fontanels, wormian bones, delayed ossification of symphysis pubis with subsequent dysplasia, dental anomalies (hyperdontia), hearing loss
  • decreased bone density and biochemical findings of hypophosphatasia
    • Genetic determination autosomal dominant
    Prevalence rare
    Function/system disorder osteo-articular
    Type malformation
    Gene product
    Name osteoblast-specific transcription factor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function clustered within the Runt domain and their protein showed neither DNA binding nor transactivation
    frameshift   haploinsufficiency Runt domain intact and protein partially competent for transactivation and with a short stature significantly milder
      translocation   one case of t(6;7) with position effect (PE) mutation at the 6p breakpoint
    various types   abnormal protein/loss of function impairing CBF binding or the Runt domain structure
    Remark(s) position effect observed for some chromosomal rearrangements