Rare variants in TP73 in a frontotemporal dementia cohort link this gene with primary progressive aphasia phenotypes.

Miguel Tábuas-PereiraIsabel SantanaMaria Rosário AlmeidaJoão DurãesMarisa LimaDiana DuroCélia Kun-RodriguesJose BrasRita Guerreiro

Published in: European journal of neurology (2022)

We show that two thoroughly studied patients without other known genetic changes harbored TP73 rare variants, which are pathogenic in silico. This adds evidence to support the role of TP73 in the ALS-FTD spectrum, especially in primary progressive aphasia cases.

Keyphrases

copy number
multiple sclerosis
end stage renal disease
genome wide
ejection fraction
newly diagnosed
chronic kidney disease
molecular docking
patient reported outcomes
transcription factor