MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Kimberley M ReidRobert V V SpaullSmrithi SalianKaty BarwickEsther MeyerJuan ZhenHiromi HirataDiba SheipouriHind BenkerroumKathleen M GormanApostolos PapandreouMichael A SimpsonYoshinobu HiranoIrene FarabellaAndriy KryshtafovychDetelina GrozevaKeren Jacqueline CarssMartin SmithHardev PallPeter LuntSusanna De GressiErik-Jan KamsteegTobias B HaackLucinda J CarrRita GuerreiroJose BrasEamonn R MaherRichard H ScottRobert J VandenbergF Lucy RaymondWui K ChongSniya Valsa SudhakarKshitij MankadMaarten E A ReithPhilippe M CampeauRobert J HarveyManju A KurianPublished in: Movement disorders : official journal of the Movement Disorder Society (2022)
We report a family harboring a homozygous MED27 variant with additional loss-of-function SLC6A7 and MPPE1 gene variants, which potentially contribute to a blended phenotype caused by multilocus pathogenic variants. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.