Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea.

Jun LiaoKeith A CoffmanJoseph LockerQuasar Saleem PadiathBruce NmeziRobyn A FilipinkJie HuMalini SathanooriSuneeta Madan-KhetarpalMarianne McGuireAllison SchreiberRocio MoranNeil FriedmanLori HoffnerAleksandar RajkovicSvetlana A YatsenkoUrvashi Surti

Published in: Molecular genetics & genomic medicine (2021)

We propose that the deletion of potential regulatory elements necessary for NKX2-1 expression in this critical region is responsible for BHC phenotype in these patients, and this is a novel disease-causing mechanism for BHC.

Keyphrases

end stage renal disease
chronic kidney disease
newly diagnosed
poor prognosis
transcription factor
peritoneal dialysis
binding protein
human health