HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

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.
AuthorsAyumi Matsumoto, Mari Kuwajima, Kunio Miyake, Karin Kojima, Naomi Nakashima, Eriko F Jimbo, Takeo Kubota, Mariko Y Momoi, Takanori Yamagata
JournalJournal of human genetics (J Hum Genet) Vol. 58 Issue 11 Pg. 755-7 (Nov 2013) ISSN: 1435-232X [Electronic] England
PMID23985797 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Ribosomal Protein S6 Kinases, 90-kDa
  • ribosomal protein S6 kinase, 90kDa, polypeptide 3
Topics
  • Adolescent
  • Adult
  • Attention Deficit Disorder with Hyperactivity (complications, genetics)
  • Child
  • Child Development Disorders, Pervasive (complications, genetics)
  • Child, Preschool
  • Chromosomes, Human, X (genetics)
  • Epilepsies, Partial (complications, genetics)
  • Female
  • Gene Duplication
  • Humans
  • Male
  • Pedigree
  • Ribosomal Protein S6 Kinases, 90-kDa (genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: