A novel, likely pathogenic variant in UBTF-related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype.

Rory James TinkerTiffany GuessDavid C RinkerJonathan H SheehanDaniel LubarskyBinu PorathMackenzie MoseraPing MayoEmily SolemLaura A LeeAsha SharamJennifer Brault

Published in: Molecular genetics & genomic medicine (2022)

Here we present a new divergent phenotype associated with a novel, likely pathogenic, missense variant at a different position in the UBTF gene, c.608A>G p.(Gln203Arg).

Keyphrases

white matter
genome wide
copy number
intellectual disability
early onset
resting state
drug induced
cerebral ischemia
genome wide identification
autism spectrum disorder
functional connectivity
subarachnoid hemorrhage