title: X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1).
abstract: The Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation characterised in male patients by psychomotor and growth retardation, and various skeletal anomalies. CLS is caused by mutations in a gene located in Xp22.2 and encoding RSK2, a growth-factor regulated protein kinase. Mutations are extremely heterogeneous and lead to premature termination of translation and/or to loss of phosphotransferase activity. No correlation between the type and location of mutation and the clinical phenotype is evident. However, in one family (MRX19), a missense mutation was associated solely with mild mental retardation and no other clinical feature. Screening for RSK2 mutations is essential in most cases to confirm the diagnosis as well as for genetic counseling.
authors.affiliation: Institut de Génétique Moléculaire et Cellulaire, Illkirch, France.
authors.forename: Sylvie
authors.initials: S
authors.lastname: Jacquot
authors.forename: Maria
authors.initials: M
authors.lastname: Zeniou
authors.forename: Renaud
authors.initials: R
authors.lastname: Touraine
authors.forename: André
authors.initials: A
authors.lastname: Hanauer
mesh_terms: D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics*; D000818:Animals; D004195:Disease Models, Animal; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D009154:Mutation; D019893:Ribosomal Protein S6 Kinases / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome
chemical_list: D019893:Ribosomal Protein S6 Kinases