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Article

A novel frameshift mutation of epithelial sodium channel β-subunit leads to Liddle syndrome in an isolated case.

Clinical endocrinology - 1 Apr 2015

Yang Kun-Qi, Lu Chao-Xia, Xiao Yan, Liu Ya-Xin, Jiang Xiong-Jing, Zhang Xue, Zhou Xian-Liang

Abstract excerpt

OBJECTIVE: Liddle syndrome, an autosomal dominant form of monogenic hypertension, is attributed to mutations in the genes encoding β and γ subunits (SCNN1B and SCNN1G) of the epithelial sodium channel (ENaC). The aim of this study was to search for pathogenic mutations of SCNN1B and SCNN1G in an adolescent under the impression of Liddle syndrome and no family history of hypertension. DESIGN AND PATIENTS: We...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25378078
DOI: 10.1111/cen.12650

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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