A novel long-range deletion spanning CDC73 and upper-stream genes discovered in a kindred of familial primary hyperparathyroidism.

Yi Yang Ailing SongMin NieYan JiangMei LiWeibo XiaXiao-Ping Xing Ou WangYa Hu

Published in: Endocrine (2021)

We discovered a novel 130 kb long-range deletion spanning CDC73 in a family of 5 persons, and the existence of the deletion was related to PHPT and PC. Our discovery validated the role of CDC73 mutation in the occurrence of PHPT and PC, which provided new information to the genetic studies of PC.

Keyphrases

cell cycle
genome wide
risk assessment
small molecule
high throughput
early onset
gene expression
cell proliferation
transcription factor
drug induced
single cell
bioinformatics analysis