An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.

Cole A DeisserothVanesa C LermaChristina L MagyarJessica Mae PfligerAarushi NayakNathan D BlissAshley W LeMaireVinodh NarayananChristopher BalakGinevra ZanniEnza Maria ValenteEnrico BertiniPaul J BenkeMichael F WanglerHsiao-Tuan Chao

Published in: Annals of neurology (2022)

We describe a symptom severity risk association with ZNF perturbations and EBF3 loss-of-function in the largest reported cohort to date of EBF3-related NDD patients. This analysis should have potential predictive clinical value for newly identified patients with EBF3 gene variants. ANN NEUROL 2022;92:138-153.

Keyphrases

copy number
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
patient reported outcomes
intellectual disability
dna methylation