Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
Patrick R BlackburnFrédéric EbsteinTzung-Chien HsiehMarialetizia MottaFrancesca Clementina RadioJohanna C HerkertTuula RinneIsabelle ThiffaultMichele RappMariel AldersSaskia MaasBénédicte GerardThomas SmolCatherine Vincent-DelormeBenjamin CognéBertrand IsidorMarie VincentRuxandra Bachmann-GagescuAnita RauchPascal JosetGiovanbattista Giovanni Battista FerreroAndrea CiolfiThomas HussonAnne-Marie GuerrotCarlos A BacinoColleen MacmurdoStephanie S ThompsonJill Anne RosenfeldLaurence Olivier-FaivreFrederic Tran Mau-ThemWallid DebVirginie VignardPankaj B AgrawalJill A MaddenAlice GoldenbergFrançois LecoquierreMichael ZechHolger ProkischJán NecpálRobert JechJuliane WinkelmannMonika Turčanová KoprušákováVassiliki KonstantopoulouJohn R YounceMarwan ShinawiChloe MightonCharlotte FungChantal MorelJordan Lerner- EllisStephanie DiTroiaMagalie BarthDominique BonneauIngrid KrapelsSander StegmannVyne van der SchootTheresa BrunetCornelia BußmannCyril MignotThomas CourtinClaudia RavelliBoris KerenAlban ZieglerLinda HasadsriPavel N PichurinEric W KleeKatheryn GrandPedro A Sanchez-LaraElke KrügerStéphane BézieauHannah KlinkhammerPeter Michael KrawitzEvan E EichlerTartaglia MarcoSébastien KüryTianyun WangPublished in: medRxiv : the preprint server for health sciences (2023)
-associated NDDs, expands the spectrum of cullin RING E3 ligase-associated neuropsychiatric disorders, and suggests haploinsufficiency via LoF variants is the predominant pathogenic mechanism.