Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.

Lot Snijders BlokArianna VinoJoery den HoedHunter R UnderhillDanielle MonteilHong LiFrancis Jeshira Reynoso SantosWendy K ChungMichelle D AmaralRhonda E SchnurTeresa Santiago-SimYue SiHan G BrunnerTjitske KleefstraSimon E Fisher

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

Collectively, our findings show that heterozygous loss-of-function variants in FOXP4 are associated with an autosomal dominant neurodevelopmental disorder with speech/language delays, growth defects, and variable congenital abnormalities.

Keyphrases

regulatory t cells
copy number
early onset
autism spectrum disorder
gene expression
transcription factor
hearing loss
dendritic cells
dna methylation
genome wide
heat stress