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GENATLAS PHENOTYPE
last update : 18-02-2016
Symbol RCDP1
Location 6q23.3
Name rhizomelic chondrodysplasia punctata, type 1
Other name(s) chondrodystrophia calcificans punctata
Corresponding gene PEX7
Main clinical features
  • pseudo-Zellweger syndrome
  • characterized by striking shortening of proximal limbs, severely disturbed endochondral bone formation, coronal clefts of vertebrate bodies,
  • associated to cataract, ichthyosis, profound growth and mental retardation and deficiency of all four PTS2 proteins, alkyl-dihydroxyacetone phosphate synthase, phytanyl-CoA hydrolase, 3 ketoacyl-CoA thiolase and mevalonate kinase participating in plasmalogen biosynthesis, phytanic acid catabolism, beta-oxidation of very long straight chain fatty acids and isoprenoid biosynthesis respectively
    • Genetic determination
    Function/system disorder osteo-articular
    metabolism/peroxisomal
    eye
    dermatology
    mental retardation
    Type disease
    Gene product
    Name peroxin 7, targeting PTS2 receptor (PEX7), with the truncated form L292ter accounting for 50% of mutants
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein truncated form L292ter accounting for 50 p100 of mutants
    frameshift   abnormal protein/loss of function mutation inducing mislocalization, duplication of nucleotides 45-52 leading to a frameshift and absence of functional protein
    Remark(s)