KEGG   DISEASE: Lessel-Kreienkamp syndrome
Entry
H02651                      Disease                                
Name
Lessel-Kreienkamp syndrome
Description
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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02651  Lessel-Kreienkamp syndrome
Gene
AGO2 [HSA:27161] [KO:K11593]
Other DBs
ICD-11: LD90.Y
OMIM: 619149
Reference
PMID:33199684
  Authors
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
  Title
Germline AGO2 mutations impair RNA interference and human neurological development.
  Journal
Nat Commun 11:5797 (2020)
DOI:10.1038/s41467-020-19572-5
LinkDB

» Japanese version

DBGET integrated database retrieval system