<i>De novo</i> coding variants in the <i>AGO1</i> gene cause a neurodevelopmental disorder with intellectual disability.
Audrey SchalkMargot A CousinNikita R DsouzaThomas D ChallmanKaren E WainZoe PowisKelly MinksAurélien TrimouilleEulalie LasseauxDidier LacombeChloé AngeliniVincent MichaudJulien Van-GilsNino SpataroAnna RuizElizabeth GabauElliot S StolermanCamerun WashingtonRay LouieBrendan C LanpherJennifer L KemppainenMicheil InnesR Frank KooyMarije MeuwissenAlice GoldenbergFrancois LecoquierreGabriella VeraKarin E M DiderichBeth SheidleyChristelle Moufawad El AchkarMeredith ParkFadi F HamdanJacques L MichaudAnn J LewisChristiane ZweierAndré ReisMatias WagnerHeike WeigandHubert JournelBoris KerenSandrine PassemardCyril MignotKoen van GassenEva H BrilstraGina ItzikowitzEmily O'HeirJake AllenKirsten A DonaldBruce Richard KorfTammi SkeltonMichelle ThompsonNathaniel H RobinNatasha L RudyWilliam B DobynsKimberly FossYuri Alexander ZarateKatherine A BosankoYves AlembikBenjamin DurandFrederic Tran Mau-ThemEmmanuelle RanzaXavier BlancStylianos E AntonarakisKirsty McWalterErin TortiFrancisca MillanAmy DameronMari TokitaMichael T ZimmermannEric W KleeAmelie PitonBenedicte GerardPublished in: Journal of medical genetics (2021)
Our study establishes that de novo coding variants in <i>AGO1</i> are involved in a novel monogenic form of NDD, highly similar to the recently reported <i>AGO2</i>-related NDD.