title: Coffin-Lowry syndrome.
abstract: Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation, which is characterized in male patients by psychomotor and growth retardation and various skeletal anomalies. Typical facial changes and specific clinical and radiological signs in the hand are useful aids in the diagnosis. CLS is caused by mutations in the RPS6KA3 gene located at Xp22.2, which encodes RSK2, a growth-factor-regulated protein kinase. RPS6KA3 mutations are extremely heterogeneous and lead to loss of phosphotransferase activity in the RSK2 kinase, most often because of premature termination of translation.
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, Strasbourg, France.
authors.forename: Patricia Marques
authors.initials: PM
authors.lastname: Pereira
authors.forename: Anne
authors.initials: A
authors.lastname: Schneider
authors.forename: Solange
authors.initials: S
authors.lastname: Pannetier
authors.forename: Delphine
authors.initials: D
authors.lastname: Heron
authors.forename: André
authors.initials: A
authors.lastname: Hanauer
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D038921:Coffin-Lowry Syndrome / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D008954:Models, Biological; D038744:Ribosomal Protein S6 Kinases, 90-kDa / Q000235:genetics / Q000502:physiology
chemical_list: D038744:Ribosomal Protein S6 Kinases, 90-kDa; C069330:ribosomal protein S6 kinase, 90kDa, polypeptide 3