A Novel Frame-Shift Mutation in SCNN1B Identified in a Chinese Family Characterized by Early-Onset Hypertension

A Novel Frame-Shift Mutation in SCNN1B Identified in a Chinese Family Characterized by Early-Onset Hypertension

BackgroundLiddle syndrome is a form of monogenic hypertension caused by mutations in the three homologous subunits of the epithelial sodium channels (ENaCs), α, β, and γ. It is characterized by early-onset refractory hypertension, hypokalemia, low renin activity, and hypoaldosteronism. In this study...

Full description

Bibliographic Details
Main Authors: Yi-Ting Lu, Xin-Chang Liu, Ze-Ming Zhou, Di Zhang, Lin Sun, Ying Zhang, Peng Fan, Lin Zhang, Ya-Xin Liu, Fang Luo, Xian-Liang Zhou
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-06-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
Liddle syndrome
frame-shift mutation
SCNN1B
monogenic hypertension
genetic testing
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2022.896564/full

Internet

https://www.frontiersin.org/articles/10.3389/fcvm.2022.896564/full

Similar Items