title: Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.
abstract: An adolescent female presented with intellectual disability, stimulus-induced drop episodes (SIDEs), facial characteristics that include wide set eyes, short nose with wide columella, full and everted lips with wide mouth and progressive skeletal changes: scoliosis, spondylolisthesis and pectus excavatum. These findings were suggestive of Coffin-Lowry syndrome (CLS), and this was confirmed by the identification of a novel mutation in RPS6KA3, a heterozygous one basepair duplication at nucleotide 1570 (c.1570dupA). This mutation occurs within the C-terminal kinase domain of the protein, and, therefore contradicts the previous report that SIDEs is only associated with premature truncation of the protein in the N-terminal kinase domain or upstream of this domain. As CLS is X-linked, it is unusual for a female to have such a classic phenotype.
authors: Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama.
authors: Kitiwan
authors: K
authors: Rojnueangnit
authors: Julie R
authors: JR
authors: Jones
authors: Monica J
authors: MJ
authors: Basehore
authors: Nathaniel H
authors: NH
authors: Robin
mesh_terms: D002648:Child; D002675:Child, Preschool; D038921:Coffin-Lowry Syndrome / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis; D019066:Facies; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D009154:Mutation; D010641:Phenotype; D054730:Protein Interaction Domains and Motifs; D011859:Radiography; D038744:Ribosomal Protein S6 Kinases, 90-kDa / Q000737:chemistry / Q000235:genetics*; D012600:Scoliosis / Q000000981:diagnostic imaging / Q000235:genetics
chemical_list: D038744:Ribosomal Protein S6 Kinases, 90-kDa; C069330:ribosomal protein S6 kinase, 90kDa, polypeptide 3
keywords: Coffin-Lowry syndrome; RPS6KA3 mutation; X-linked syndrome; progressive skeletal changes; stimulus-induced drop episodes (SIDEs)