De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Ghayda M MirzaaJessica X ChongAmélie PitonBernt PoppKimberly FossHui GuoRicardo HarripaulKun XiaJoshua ScheckKimberly A AldingerSamin A SajanSha TangDominique BonneauAnita BeckJanson WhiteSonal MahidaJacqueline HarrisConstance Smith-HicksJuliane HoyerChristiane ZweierAndré ReisChristian T ThielRami Abou JamraNatasha ZeidAmy YangLaura S FarachLaurence WalshKatelyn PayneLuis RohenaMilen VelinovAlban ZieglerElise SchaeferVincent GatinoisDavid GenevièveMarleen E H SimonJennefer KohlerJoshua RotenbergPatricia WheelerAustin LarsonMichelle E ErnstCigdem I AkmanRachel WestmanPatricia BlanchetLori-Anne SchillaciCatherine Vincent-DelormeKaren W GrippFrancesca MattioliGwenaël Le GuyaderBénédicte GerardMichèle Mathieu-DramardGilles MorinRoksana SasanfarMuhammad AyubNasim VasliSandra YangRick PersonKristin G MonaghanDeborah A NickersonEllen van BinsbergenGregory M EnnsAnnika M DriesLeah J RoweAnne C H TsaiShayna SvihovecJennifer FriedmanZehra AghaRaheel QamarLance H RodanJulian Martinez-AgostoCharlotte W OckeloenMarie VincentWilliam James SunderlandJonathan A Bernsteinnull nullEvan E EichlerJohn B Vincentnull nullMichael J BamshadPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
De novo and dominantly inherited variants in ZNF292 are associated with a range of neurodevelopmental features including ID and ASD. The clinical spectrum is broad, and most individuals present with mild to moderate ID with or without other syndromic features. Our results suggest that variants in ZNF292 are likely a recurrent cause of a neurodevelopmental disorder manifesting as ID with or without ASD.