Genomic profiling reveals the variant landscape of sporadic parathyroid adenomas in Chinese population.

Xiaohui TaoTian XuXiaoyun LinShuqin XuYouben FanBomin GuoXianzhao DengQiong JiaoLihui ChenZhe WeiChengkun ChenWendi YangZhen-Lin Zhang Xiangtian Yu Hua Yue

Published in: The Journal of clinical endocrinology and metabolism (2023)

Our study expanded the pathogenic variant spectrum of PA, and indicated that KMT2D might be a novel candidate driver gene and to be considered as a diagnostic biomarker for PA. Meanwhile, CDC73 mutations might be an early developmental event from PA to PC. The results provided insights into elucidating the pathogenesis of parathyroid tumorigenesis and a certain basis for clinical diagnosis and treatment.

Keyphrases

copy number
single cell
late onset
gene expression
dna methylation
amyotrophic lateral sclerosis
genome wide identification
early onset