Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Paolo ZanoniKatharina SteindlDeepanwita SenguptaPascal JosetAngela BahrHeinrich StichtMariarosaria Lang-MuritanoConny M A van Ravenswaaij-ArtsMarwan ShinawiMarisa AndrewsTania Attie-BitachIsabelle MaystadtNewell BelnapValerie BenoitGeoffroy DelplancqBert B A de VriesSarah GrottoDidier LacombeAustin LarsonJeroen MourmansKatrin ÕunapGiulia PetrilliRolph PfundtKeri RamseyLot Snijders BlokVassilis TsatsarisAntonio VitobelloLaurence FaivrePatricia G WheelerMarijke R WeversMonica WojcikMarkus ZweierOr GozaniAnita RauchPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
NSD2 loss-of-function variants lead to a distinct, rather mild phenotype partially overlapping with WHS. To avoid confusion for patients, NSD2 deficiency may be named Rauch-Steindl syndrome after the delineators of this phenotype.