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last update : 26-10-2010
Symbol CLS
Location Xp22.12
Name Coffin-Lowry syndrome
Corresponding gene RPS6KA3
Main clinical features
  • mental retardation, short stature, evolutive coarse facies, everted lips, progressive kyphoscoliosis, soft hands with tapering fingers, a large variety of mutations mostly responsible of loss of function
  • Genetic determination sex linked
    Function/system disorder congenital malformation
    mental retardation
    Type disease
    Gene product
    Name growth factor regulated protein kinase, polypeptide peptide 3 (RPS6KA3)
    Gene mutationChromosome rearrangementEffectComments
    unknown   truncated protein truncation in the N-terminal kinase domain or upstream of this domain
    Genotype/Phenotype correlations
  • two-nucleotide insertion (298 ins TG) associated to severe mental retardation with, on brain MRI, abnormalities in deep subcortical white matter, thinning of the corpus callosum, hypoplastic cerebellar vermis, and asymmetry of the lateral ventricles
  • form with drop episodes in premature truncation of the protein