| H01306 | |
| H number | H01306 |
| Name | FRA12A mental retardation |
| Description | FRA12A mental retardation is a rare form of mental retardation caused by expansion of CGG repeat. This repeat is in the 5' untranslated region of the gene DIP2B. It has been suggested that deficiency of DIP2B, a brain-expressed gene, may mediate the neurocognitive problems associated with FRA12A. |
| Category | Mental and behavioural disorder |
| Network | - |
| Gene | DIP2B [HSA:57609] [KO:K24908] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 6A00 ICD-10: F79 MeSH: C566980 OMIM: 136630 |
| Reference | PMID:17236128 AUTHORS Winnepenninckx B, Debacker K, Ramsay J, Smeets D, Smits A, FitzPatrick DR, Kooy RF TITLE CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1. JOURNAL Am J Hum Genet 80:221-31 (2007) DOI:10.1086/510800 PMID:18957431 AUTHORS Kumari D, Usdin K TITLE Chromatin remodeling in the noncoding repeat expansion diseases. JOURNAL J Biol Chem 284:7413-7 (2009) DOI:10.1074/jbc.R800026200 |