Article
A frameshift mutation in the SCNN1B gene in a family with Liddle syndrome: A case report and systematic review.
Molecular medicine reports - 1 Feb 2024
Lu Yiting, Liu Xinchang, Sun Lin, Zhang Di, Fan Peng, Yang Kunqi, Zhang Lin, Liu Yaxin, Zhou Xianliang
Abstract excerpt
Liddle syndrome is an autosomal dominant form of monogenic hypertension that is caused by mutations in SCNN1A, SCNN1B or SCNN1G, which respectively encode the α, β and γ subunits of the epithelial sodium channel. In the present study, DNA was extracted from leukocytes in peripheral blood obtained from all members of a family with Liddle syndrome. Whole‑exome sequencing and Sanger sequencing were performed to...
Topics
- Humans
- Liddle Syndrome
- Epithelial Sodium Channels
- Frameshift Mutation
- Mutation
- Hypertension
- Potassium