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.
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Authors | Ayumi Matsumoto, Mari Kuwajima, Kunio Miyake, Karin Kojima, Naomi Nakashima, Eriko F Jimbo, Takeo Kubota, Mariko Y Momoi, Takanori Yamagata |
Journal | Journal of human genetics
(J Hum Genet)
Vol. 58
Issue 11
Pg. 755-7
(Nov 2013)
ISSN: 1435-232X [Electronic] England |
PMID | 23985797
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Ribosomal Protein S6 Kinases, 90-kDa
- ribosomal protein S6 kinase, 90kDa, polypeptide 3
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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)
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