| H01223 | |
| H番号 | H01223 |
| 名称 | 常同性運動・てんかん および/または大脳奇形を伴う精神遅滞; 5q14.3 欠失症候群 |
| 概要 | Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations (MRSME) is a disorder characterized by severe mental retardation, absent speech, hypotonia, poor eye contact and stereotypic movements. Most of the patients presented also with facial dysmorphic features, epilepsy and cerebral malformations. It has been suggested that haploinsufficiency of MEF2C is responsible for MRSME. |
| カテゴリ | 染色体異常 |
| ネットワーク | - |
| 病因遺伝子 | MEF2C [HSA:4208] [KO:K04454] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD44.50 ICD-10: Q93.5 OMIM: 613443 |
| 文献 | PMID:19592390 著者 Le Meur N, Holder-Espinasse M, Jaillard S, Goldenberg A, Joriot S, Amati-Bonneau P, Guichet A, Barth M, Charollais A, Journel H, Auvin S, Boucher C, Kerckaert JP, David V, Manouvrier-Hanu S, Saugier-Veber P, Frebourg T, Dubourg C, Andrieux J, Bonneau D タイトル MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. 雑誌 J Med Genet 47:22-9 (2010) DOI:10.1136/jmg.2009.069732 |