An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities

Journal of Human Genetics

Volumn 58, Issue 11, 2013, Pages 755-757

  Matsumoto, Ayumi ^a   Kuwajima, Mari ^a   Miyake, Kunio ^b   Kojima, Karin ^a   Nakashima, Naomi ^a   Jimbo, Eriko F ^a   Kubota, Takeo ^b   Momoi, Mariko Y ^a   Yamagata, Takanori ^a  

^a JICHI MEDICAL UNIVERSITY   (Japan)

^b UNIVERSITY OF YAMANASHI   (Japan)

Author keywords

Coffin Lowry syndrome; Epilepsy; Intellectual disability; Microduplication; Pervasive development disorder; RPS6KA3; Xp22.12

Indexed keywords

ANDROGEN RECEPTOR; BRAIN DERIVED NEUROTROPHIC FACTOR; INITIATION FACTOR 1A; MICRORNA; S6 KINASE; VALPROIC ACID;

ALLELE; ARTICLE; ATTENTION DEFICIT DISORDER; BEHAVIOR DISORDER; CASE REPORT; COMPARATIVE GENOMIC HYBRIDIZATION; COMPLEX PARTIAL SEIZURE; DEPRESSION; DEVELOPMENTAL DISORDER; DSM-IV; ELECTROENCEPHALOGRAM; EPILEPSY; FACE DYSMORPHIA; FAMILY HISTORY; GENE DUPLICATION; GENETIC ANALYSIS; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; LEARNING DISORDER; MALE; NEUROLOGIC DISEASE; OPEN READING FRAME; PANIC; POLYMERASE CHAIN REACTION; SPEECH; WECHSLER INTELLIGENCE SCALE; X CHROMOSOME; X CHROMOSOME INACTIVATION;

ADOLESCENT; ADULT; ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; EPILEPSIES, PARTIAL; FEMALE; GENE DUPLICATION; HUMANS; MALE; PEDIGREE; RIBOSOMAL PROTEIN S6 KINASES, 90-KDA;

EID: 84888612022     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2013.88     Document Type: Article

References (9)

1. Pereira, P. M., Schneider, A., Pannetier, S., Heron, D. & Hanauer, A. Coffin-Lowry syndrome. Eur. J. Hum. Genet. 18, 627-633 (2010
2. Merienne, K., Jacquot, S., Pannetier, S., Zeniou, M., Bankier, A., Gecz, J. et al. A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. Nat. Genet. 22, 13-14 (1999
3. Madrigal, I., Rodriguez-Revenga, L., Armengol, L., Gonzalez, E., Rodriguez, B., Badenas, C. et al. X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. BMC. Genomics 8, 443 (2007
4. Tejada, M. I., Martinez-Bouzas, C., Garcia-Ribes, A., Larrucea, S., Acquadro, F., Cigudosa, J. C. et al. A child with mild X-linked intellectual disability and a microduplication at Xp22.12 including RPS6KA3. Pediatrics 128, e1029-e1033 (2011
5. Kubota, T. A new assay for the analysis of X-chromosome inactivation in carriers with an X-linked disease. Brain. Dev. 23 (Suppl 1), S177-S181 (2001
6. Kubota, T., Das, S., Christian, S. L., Baylin, S. B., Herman, J. G. & Ledbetter, D. H. Methylation-specific PCR simplifies imprinting analysis. Nat. Genet. 16, 16-17 (1997
7. Brooks, L. D. & Marks, R. W. The organization of genetic variation for recombination in Drosophila melanogaster. Genetics 114, 525-547 (1986
8. Hong, E. J., McCord, A. E. & Greenberg, M. E. A biological function for the neuronal activity-dependent component of Bdnf transcription in the development of cortical inhibition. Neuron 60, 610-624 (2008
9. Hunter, A. G. Coffin-Lowry syndrome: A 20-year follow-up and review of long-term outcomes. Am. J. Med. Genet. 111, 345-355 (2002