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...
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: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fcvm.2022.896564/full |
Similar Items
-
Genetic screening of SCNN1B and SCNN1G genes in early-onset hypertensive patients helps to identify Liddle syndrome
by: Kun-Qi Yang, et al.
Published: (2018-02-01) -
Premature Stroke Secondary to Severe Hypertension Results from Liddle Syndrome Caused by a Novel SCNN1B Mutation
by: Peng Fan, et al.
Published: (2020-07-01) -
Liddle Syndrome due to a Novel c.1713 Deletion in the Epithelial Sodium Channel β-Subunit in a Normotensive Adolescent
by: Raven K. Brower, BS, et al.
Published: (2021-01-01) -
Liddle syndrome misdiagnosed as primary aldosteronism resulting from a novel frameshift mutation of SCNN1B
by: Peng Fan, et al.
Published: (2018-12-01) -
Liddle syndrome due to a novel mutation in the γ subunit of the epithelial sodium channel (ENaC) in family from Russia: a case report
by: Anastasiya A. Kozina, et al.
Published: (2019-10-01)