| H01306 | |
| H番号 | H01306 |
| 名称 | FRA12A 精神遅滞 |
| 概要 | 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. |
| カテゴリ | 精神及び行動の障害 |
| ネットワーク | - |
| 病因遺伝子 | DIP2B [HSA:57609] [KO:K24908] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 6A00 ICD-10: F79 MeSH: C566980 OMIM: 136630 |
| 文献 | PMID:17236128 著者 Winnepenninckx B, Debacker K, Ramsay J, Smeets D, Smits A, FitzPatrick DR, Kooy RF タイトル CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1. 雑誌 Am J Hum Genet 80:221-31 (2007) DOI:10.1086/510800 PMID:18957431 著者 Kumari D, Usdin K タイトル Chromatin remodeling in the noncoding repeat expansion diseases. 雑誌 J Biol Chem 284:7413-7 (2009) DOI:10.1074/jbc.R800026200 |