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 JosetGiovanni Battista FerreroAndrea CiolfiThomas HussonAnne-Marie GuerrotCarlos BacinoColleen MacmurdoStephanie S ThompsonJill A RosenfeldLaurence FaivreFrederic Tran Mau-ThemWallid DebVirginie VignardPankaj B AgrawalJill A MaddenAlice GoldenbergFrançois LecoquierreMichael ZechHolger ProkischJán NecpálRobert JechJuliane WinkelmannMonika Turčanová KoprušákováVassiliki KonstantopoulouJohn R YounceMarwan S ShinawiChloe MightonCharlotte FungChantal F MorelJordan Lerner-EllisStephanie DiTroiaMagalie BarthDominique BonneauIngrid KrapelsAlexander P A StegmannVyne van der SchootTheresa BrunetCornelia BußmannCyril MignotGiuseppe ZampinoSaskia B WortmannJohannes A MayrRené G FeichtingerThomas CourtinClaudia RavelliBoris KerenAlban ZieglerLinda HasadsriPavel N PichurinEric W KleeKatheryn GrandPedro A Sanchez-LaraElke KrügerStéphane BézieauHannah KlinkhammerPeter Michael KrawitzEvan E EichlerTartaglia MarcoSébastien KüryTianyun WangPublished in: Annals of neurology (2024)
Our study further refines the clinical and mutational spectrum of CUL3-associated NDDs, expands the spectrum of cullin RING E3 ligase-associated neuropsychiatric disorders, and suggests haploinsufficiency via LoF variants is the predominant pathogenic mechanism. ANN NEUROL 2024.