Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Alison M MuirJennifer F GardnerRichard H van JaarsveldIris M de LangeJasper J van der SmagtGolder N WilsonHolly DubbsEthan M GoldbergLia ZitanoCaleb BuppJose MartinezMyriam SrourAndrea AccogliAfnan AlhakeemMeira MeltzerAndrea GropmanCarole BrewerRichard C CaswellTara MontgomeryCaoimhe McKennaShane McKeeCorinna PowellPradeep C VasudevanAngela F BradyShelagh JossCarolyn TysoeGrace NohMark TarnopolskyLauren BradyMuhammad ZafarSamantha A Schrier VerganoBrianna MurrayLindsey SawyerBryan E HainlineKatherine SappDanielle DeMarzoDarcy J HuismannIngrid M WentzensenRhonda E SchnurKristin G MonaghanJane JuusolaLindsay RhodesWilliam B DobynsFrancois LecoquierreAlice GoldenbergTilman PolsterSusanne Axer-SchaeferKonrad PlatzerChiara KlöcknerTrevor L HoffmanDaniel G MacArthurMelanie C O'LearyGrace E VanNoyEleina EnglandVinod C VargheseHeather C MeffordPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
This collaboration establishes GNAI1 variants as a cause of NDDs. GNAI1-related NDD is most often characterized by severe to profound delays, hypotonia, epilepsy that ranges from self-limiting to intractable, behavior problems, and variable mild dysmorphic features.