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GENATLAS PHENOTYPE

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)

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
unknown		truncated protein	truncation in the N-terminal kinase domain or upstream of this domain

Remark(s)

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