A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Sara CuvertinoVerity HartillAlice ColyerTerence GarnerNisha NairLihadh Al-GazaliNatalie CanhamVictor FaundesFrances FlinterJozef HertecantMuriel Holder-EspinasseBrian JacksonSally Ann LynchFatima NadatVagheesh M NarasimhanMichelle PeckhamRobert SellersMarco SeriFrancesca MontanariLaura SouthgateGabriella Maria SqueoRichard TrembathDavid van HeelSantina VenutoDaniel WeisbergKaren StalsSian Ellardnull nullAnne BartonSusan J KimberEamonn SheridanGiuseppe MerlaAdam StevensColin A JohnsonSiddharth BankaPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
KMT2D MVs located in a specific region spanning exons 38 and 39 and affecting highly conserved residues cause a novel multiple malformations syndrome distinct from KS1. Unlike KMT2D haploinsufficiency in KS1, these MVs likely result in disease through a dominant negative mechanism.