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GENATLAS PHENOTYPE
last update : 22/12/2008
Symbol CRS2
Location 5q35.2
Name craniosynostosis, syndromatic 2
Other name(s) Boston-type craniosynostosis
Corresponding gene MSX2
Main clinical features
  • primary, with a phenotypic spectrum ranging from frontal bossing only to cloverleaf skull
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    congenital malformation
    Type disease
    Gene product
    Name homeo domain encoding gene (MSX2)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function Pro148His, enhancing the DNA binding properties of the gene
    Remark(s)
  • mutation P148H results in an increased susceptibility of both wild type and mutant MSX2 to proteasomal degradation
  • craniosynostosis results from the enhanced ubiquitin-dependent degradation of MSX2, which functions in the maintenance of the suture space through the stimulation of osteoprogenitor cell proliferation and the inhibition of mineralization