Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.
Uirá Souto MeloDevon BonnerKevin C Kent LloydAla MoshiriBrandon WillisLouise LanoueLynette BowerBrian C LeonardDavi Jardim MartinsFernando GomesFelipe de Souza LeiteDanyllo OliveiraJoão Paulo KitajimaFabiola P MonteiroMayana ZatzCarlos Frederico Martins MenckMatthew T WheelerJonathan A BernsteinKevin DumasElizabeth SpiteriNataliya Di DonatoArne JahnMais HashemHessa S AlsaifAziza ChedrawiFowzan S AlkurayaFernando KokHeather M ByersPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
These data indicate that biallelic loss-of-function variants in UBE4A cause a novel intellectual disability syndrome, suggesting that UBE4A enzyme activity is required for normal development and neurological function.