GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Christine ShiehNatasha JonesBrigitte VanleMargaret AuAlden Y HuangAna P G SilvaHane LeeEmilie D DouineMaria G OteroAndrew ChoiKatheryn GrandIngrid P TaffMauricio R DelgadoM J HajianpourAndrea SeeleyLuis RohenaHilary VernonKaren W GrippSamantha A VerganoSonal MahidaSakkubai NaiduAna Berta SousaKaren E WainThomas D ChallmanGeoffrey BeekDonald BaselJudith RanellsRosemarie SmithRoman YusupovMary-Louise FreckmannLisa OhdenLaura Davis-KeppenDavid ChitayatJames J DowlingRichard FinkelAndrew DauberRebecca SpillmannLoren D M Penanull nullKay MetcalfeMiranda SplittKatherine LachlanShane A McKeeJane HurstDavid R FitzpatrickJenny E V MortonHelen CoxSunita VenkateswaranJuan I YoungEric D MarshStanley F NelsonJulian A MartinezJohn M GrahamUsha KiniJoel P MackayTyler Mark PiersonPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
A consistent GAND phenotype was caused by a range of genetic variants in GATAD2B that include loss-of-function and missense subtypes. Missense variants were present in conserved region domains that disrupted assembly of NuRD complex proteins. GAND's clinical phenotype had substantial clinical overlap with other disorders associated with the NuRD complex that involve CHD3 and CHD4, with clinical features of hypotonia, intellectual disability, cardiac defects, childhood apraxia of speech, and macrocephaly.