Coffin-Lowry syndrome.
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.
Pereira
Patricia Marques
PM
Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, Strasbourg, France.
Schneider
Anne
A
Pannetier
Solange
S
Heron
Delphine
D
Hanauer
André
A
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
D038744:Ribosomal Protein S6 Kinases, 90-kDa; C069330:ribosomal protein S6 kinase, 90kDa, polypeptide 3