A Novel Frameshift Mutation of SCNN1G Causing Liddle Syndrome with Normokalemia.

ABSTRACT:

Background

Liddle syndrome (LS) is an autosomal dominant disorder caused by single-gene mutations of the epithelial sodium channel (ENaC). It is characterized by early-onset hypertension, spontaneous hypokalemia and low plasma renin and aldosterone concentrations. In this study, we reported an LS pedigree with normokalemia resulting from a novel SCNN1G frameshift mutation.

Methods

Peripheral blood samples were collected from the proband and eight family members for DNA extraction. Next-generation sequencing and Sanger sequencing were performed to identify the SCNN1G mutation. Clinical examinations were used to comprehensively evaluate the phenotypes of two patients.

Results

Genetic analysis identified a novel SCNN1G frameshift mutation, p.Arg586Valfs*598, in the proba

SUBMITTER: Fan P 

PROVIDER: S-EPMC6636789 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature