title: An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities.
abstract: The ribosomal protein S6 kinase, 90 kb, polypeptide 3 gene (RPS6KA3) is responsible for Coffin-Lowry syndrome (CLS), which is characterized by intellectual disability (ID) and facial and bony abnormalities. This gene also affects nonsyndromic X-linked ID and nonsyndromic X-linked ID without bony abnormalities. Two families have been previously reported to have genetic microduplication including RPS6KA3. In the present study, we used array-comparative genomic hybridization (CGH) analysis with Agilent Human genome CGH 180K and detected a 584-kb microduplication spanning 19.92-20.50 Mb of Xp22.12 (including RPS6KA3) in the members of one family, including three brothers, two sisters, and their mother. The 15-year-old male proband and one of his brothers had mild ID and localization-related epilepsy, whereas his other brother presented borderline intelligence quotient (IQ) and attention-deficit-hyperactivity disorder (ADHD). One sister presented pervasive development disorder (PDD). Analysis of this family suggests that RPS6KA3 duplication is responsible for mild ID, ADHD, and localization-related epilepsy, and possibly for PDD.
authors.affiliation: Department of Pediatrics, Jichi Medical University, Shimotsuke, Japan.
authors.forename: Ayumi
authors.initials: A
authors.lastname: Matsumoto
authors.forename: Mari
authors.initials: M
authors.lastname: Kuwajima
authors.forename: Kunio
authors.initials: K
authors.lastname: Miyake
authors.forename: Karin
authors.initials: K
authors.lastname: Kojima
authors.forename: Naomi
authors.initials: N
authors.lastname: Nakashima
authors.forename: Eriko F
authors.initials: EF
authors.lastname: Jimbo
authors.forename: Takeo
authors.initials: T
authors.lastname: Kubota
authors.forename: Mariko Y
authors.initials: MY
authors.lastname: Momoi
authors.forename: Takanori
authors.initials: T
authors.lastname: Yamagata
mesh_terms: D000293:Adolescent; D000328:Adult; D001289:Attention Deficit Disorder with Hyperactivity / Q000150:complications / Q000235:genetics*; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000150:complications / Q000235:genetics*; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics*; D004828:Epilepsies, Partial / Q000150:complications / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008297:Male; D010375:Pedigree; D038744:Ribosomal Protein S6 Kinases, 90-kDa / Q000235:genetics*
chemical_list: D038744:Ribosomal Protein S6 Kinases, 90-kDa; C069330:ribosomal protein S6 kinase, 90kDa, polypeptide 3