JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Eline A VerberneShuxiang GohJade EnglandManon van GinkelLouise Rafael-CroesSaskia MaasAbeltje PolstraYuri A ZarateKatherine A BosankoKieran B PechterEmma BedoukianKosuke IzumiAyeshah ChaudhryNathaniel H RobinMegan BootheNatalie C LippaVimla AggarwalDarryl C De VivoAnna LehmanCauses StudySylvia StocklerAnge-Line BruelBertrand IsidorJennifer LemonsDavid F Rodriguez-BuriticaChristopher M RichmondZornitza StarkPankaj B AgrawalR Frank KooyMarije E C MeuwissenDavid A KoolenRolf PfundtAgne LiedenBritt-Marie AnderlidDagmar GlatzMarcel M A M MannensMadhura BakshiFrédérick A MalletteMieke M van HaelstPhilippe M CampeauPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
We report that JARID2 haploinsufficiency leads to a clinically distinct neurodevelopmental syndrome, thus establishing gene-disease validity for the purpose of diagnostic reporting.