De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Gerarda CappuccioCamille SayouPauline Le TannoEmilie TisserantAnge-Line BruelSara El KennaniJoaquim SáKaren J LowCristina DiasMarkéta HavlovicováMiroslava HančárováEvan E EichlerFrançoise DevillardSébastien MouttonJulien Van-GilsChristèle DubourgSylvie OdentBénédicte GerardAmélie PitonToshiyuki YamamotoNobuhiko OkamotoHelen FirthKay MetcalfeAnna MohKimberly A ChapmanErfan Aref-EshghiJennifer KerkhofAnnalaura TorellaVincenzo NigroLaurence PerrinJuliette PiardGwenaël Le GuyaderThibaud JouanChristel Thauvin-RobinetYannis DuffourdJaya K George-AbrahamCatherine A BuchananDenise WilliamsUsha KiniKate Wilsonnull nullSérgio B SousaRaoul C M HennekamBekim SadikovicJulien ThevenonJérôme GovinAntonio VitobelloNicola Brunetti-PierriPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
We identified a novel recognizable syndrome named BIS associated with clustered de novo SMARCA2 variants outside the helicase domains, phenotypically and molecularly distinct from NCBRS.