title: RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.
abstract: Coffin-Lowry syndrome is an X-linked mental retardation disorder with dysmorphism caused by mutation of the ribosomal S6 kinase (RSK2) gene. Coffin-Lowry syndrome patients can experience unusual drop episodes whereby an abrupt loss of muscle tone and falling down can be induced by sudden, unexpected tactile or auditory stimuli. We detected a C913T (R305X) mutation in a female Coffin-Lowry syndrome patient with drop episodes. All mutations in our patient and those previously reported in patients with drop episodes result in premature truncation of the RSK2 protein in the N-terminal kinase domain or upstream of this domain.
authors.affiliation: Department of Pediatrics, Jichi Medical School, 3311-1 Minamikawachi-machi, Tochigi 329-0498, Japan.
authors.forename: Miki
authors.initials: M
authors.lastname: Nakamura
authors.forename: Takanori
authors.initials: T
authors.lastname: Yamagata
authors.forename: Masato
authors.initials: M
authors.lastname: Mori
authors.forename: Mariko Y
authors.initials: MY
authors.lastname: Momoi
mesh_terms: D000328:Adult; D001483:Base Sequence; D038921:Coffin-Lowry Syndrome / Q000150:complications / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D038744:Ribosomal Protein S6 Kinases, 90-kDa / Q000235:genetics*; D013575:Syncope / Q000209:etiology*
chemical_list: D038744:Ribosomal Protein S6 Kinases, 90-kDa; C069330:ribosomal protein S6 kinase, 90kDa, polypeptide 3