KEGG   DISEASE: Lessel-Kreienkamp 症候群
エントリ  
H02651                                                             
名称    
Lessel-Kreienkamp 症候群
概要    
Lessel-Kreienkamp syndrome (LESKRES) is a neurodevelopmental disorder caused by germline mutations in AGO2 that encodes a member of the Argonaute family of proteins. AGO2 and associated miRNAs form the RNA-induced silencing complex (RISC), which targets mRNAs for translational silencing and degradation as part of the RNA interference pathway.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  LD90  関連する臨床的特徴として知的発達障害を伴う病状
   H02651  Lessel-Kreienkamp 症候群
病因遺伝子 
AGO2 [HSA:27161] [KO:K11593]
リンク   
ICD-11: LD90.Y
OMIM: 619149
文献    
  著者
Lessel D, Zeitler DM, Reijnders MRF, Kazantsev A, Hassani Nia F, Bartholomaus A, Martens V, Bruckmann A, Graus V, McConkie-Rosell A, McDonald M, Lozic B, Tan ES, Gerkes E, Johannsen J, Denecke J, Telegrafi A, Zonneveld-Huijssoon E, Lemmink HH, Cham BWM, Kovacevic T, Ramsdell L, Foss K, Le Duc D, Mitter D, Syrbe S, Merkenschlager A, Sinnema M, Panis B, Lazier J, Osmond M, Hartley T, Mortreux J, Busa T, Missirian C, Prasun P, Luttgen S, Mannucci I, Lessel I, Schob C, Kindler S, Pappas J, Rabin R, Willemsen M, Gardeitchik T, Lohner K, Rump P, Dias KR, Evans CA, Andrews PI, Roscioli T, Brunner HG, Chijiwa C, Lewis MES, Jamra RA, Dyment DA, Boycott KM, Stegmann APA, Kubisch C, Tan EC, Mirzaa GM, McWalter K, Kleefstra T, Pfundt R, Ignatova Z, Meister G, Kreienkamp HJ
  タイトル
Germline AGO2 mutations impair RNA interference and human neurological development.
  雑誌
Nat Commun 11:5797 (2020)
DOI:10.1038/s41467-020-19572-5
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