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De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

dc.rights.licenseopenen_US
dc.contributor.authorSCHALK, Audrey
dc.contributor.authorCOUSIN, Margot A
dc.contributor.authorDSOUZA, Nikita R
dc.contributor.authorCHALLMAN, Thomas D
dc.contributor.authorWAIN, Karen E
dc.contributor.authorPOWIS, Zoe
dc.contributor.authorMINKS, Kelly
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorTRIMOUILLE, Aurelien
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLASSEAUX, Eulalie
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
dc.contributor.authorANGELINI, Chloé
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMICHAUD, Vincent
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorVAN-GILS, Julien
dc.contributor.authorSPATARO, Nino
dc.contributor.authorRUIZ, Anna
dc.contributor.authorGABAU, Elizabeth
dc.contributor.authorSTOLERMAN, Elliot
dc.contributor.authorWASHINGTON, Camerun
dc.contributor.authorLOUIE, Ray
dc.contributor.authorLANPHER, Brendan C
dc.contributor.authorKEMPPAINEN, Jennifer L
dc.contributor.authorINNES, Micheil
dc.contributor.authorKOOY, Frank
dc.contributor.authorMEUWISSEN, Marije
dc.contributor.authorGOLDENBERG, Alice
dc.contributor.authorLECOQUIERRE, Francois
dc.contributor.authorVERA, Gabriella
dc.contributor.authorDIDERICH, Karin E M
dc.contributor.authorSHEIDLEY, Beth
dc.contributor.authorEL ACHKAR, Christelle Moufawad
dc.contributor.authorPARK, Meredith
dc.contributor.authorHAMDAN, Fadi F
dc.contributor.authorMICHAUD, Jacques L
dc.contributor.authorLEWIS, Ann J
dc.contributor.authorZWEIER, Christiane
dc.contributor.authorREIS, André
dc.contributor.authorWAGNER, Matias
dc.contributor.authorWEIGAND, Heike
dc.contributor.authorJOURNEL, Hubert
dc.contributor.authorKEREN, Boris
dc.contributor.authorPASSEMARD, Sandrine
dc.contributor.authorMIGNOT, Cyril
dc.contributor.authorVAN GASSEN, Koen
dc.contributor.authorBRILSTRA, Eva H
dc.contributor.authorITZIKOWITZ, Gina
dc.contributor.authorO'HEIR, Emily
dc.contributor.authorALLEN, Jake
dc.contributor.authorDONALD, Kirsten A
dc.contributor.authorKORF, Bruce Richard
dc.contributor.authorSKELTON, Tammi
dc.contributor.authorTHOMPSON, Michelle
dc.contributor.authorROBIN, Nathaniel H
dc.contributor.authorRUDY, Natasha L
dc.contributor.authorDOBYNS, William B
dc.contributor.authorFOSS, Kimberly
dc.contributor.authorZARATE, Yuri Alexander
dc.contributor.authorBOSANKO, Katherine A
dc.contributor.authorALEMBIK, Yves
dc.contributor.authorDURAND, Benjamin
dc.contributor.authorTRAN MAU THEM, Frederic
dc.contributor.authorRANZA, Emmanuelle
dc.contributor.authorBLANC, Xavier
dc.contributor.authorANTONARAKIS, Stylianos E
dc.contributor.authorMCWALTER, Kirsty
dc.contributor.authorTORTI, Erin
dc.contributor.authorMILLAN, Francisca
dc.contributor.authorDAMERON, Amy
dc.contributor.authorTOKITA, Mari
dc.contributor.authorZIMMERMANN, Michael T
dc.contributor.authorKLEE, Eric W
dc.contributor.authorPITON, Amelie
dc.contributor.authorGERARD, Benedicte
dc.date.accessioned2023-11-10T10:40:39Z
dc.date.available2023-11-10T10:40:39Z
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/184714
dc.description.abstractEnHigh-impact pathogenic variants in more than a thousand genes are involved in Mendelian forms of neurodevelopmental disorders (NDD). This study describes the molecular and clinical characterisation of 28 probands with NDD harbouring heterozygous coding variants, occurring de novo for all those whose transmission could have been verified (26/28). A total of 15 unique variants leading to amino acid changes or deletions were identified: 12 missense variants, two in-frame deletions of one codon, and one canonical splice variant leading to a deletion of two amino acid residues. Recurrently identified variants were present in several unrelated individuals: p.(Phe180del), p.(Leu190Pro), p.(Leu190Arg), p.(Gly199Ser), p.(Val254Ile) and p.(Glu376del). encodes the Argonaute 1 protein, which functions in gene-silencing pathways mediated by small non-coding RNAs. Three-dimensional protein structure predictions suggest that these variants might alter the flexibility of the AGO1 linker domains, which likely would impair its function in mRNA processing. Affected individuals present with intellectual disability of varying severity, as well as speech and motor delay, autistic behaviour and additional behavioural manifestations. Our study establishes that de novo coding variants in are involved in a novel monogenic form of NDD, highly similar to the recently reported -related NDD.
dc.language.isoENen_US
dc.rightsAttribution-NonCommercial-NoDerivs 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/us/*
dc.subjectAGO1
dc.subjectMicroRNA
dc.subjectIntellectual disability
dc.subjectAutism
dc.subjectArgonaute
dc.title.enDe novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
dc.typeDocument de travail - Pré-publicationen_US
dc.identifier.doi10.1136/jmedgenet-2021-107751en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed34930816en_US
bordeaux.journalJournal of Medical Geneticsen_US
bordeaux.page965-975en_US
bordeaux.volume59en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue10en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.import.sourcepubmed
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exportfalse
workflow.import.sourcepubmed
dc.rights.ccCC BY-NC-SAen_US
bordeaux.subtypePrepublication/Preprinten_US
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