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GENATLAS PHENOTYPE
last update : 17-11-2015
Symbol SEMD2
Location 11q22.2
Name spondyloepimetaphyseal dysplasia, type 2
Other name(s) spondyloepimetaphyseal dysplasia, Missouri type
Corresponding gene MMP13
Other symbol(s) SEMD
Main clinical features
  • moderate to severe metaphyseal changes, mild epiphyseal involvement, pear-shaped vertebrae in childhood, rhizomelic shortening, especially of the lower limbs, and genu varum deformities secondary to bowing of the femurs, tibias, or both
    • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     F56S, that substituted an evolutionarily conserved phenylalanine residue for a serine in the proregion domain , likely resulting in a hydrophobic cavity with misfolding, autoactivation, and degradation of mutant protein intracellularly
    Remark(s)