ArticleCold Spring Harbor molecular case studies2016
Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome.
Article in Cold Spring Harbor molecular case studies, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 14 citations in OpenAlex.
- Liddle syndrome with a SCNN1B mutation: a case report and systematic review.BMC nephrology · 2025Pooled it
- A parent and child with Liddle syndrome diagnosed correctly with the child as the proband: a case report with review of literature.Endocrine journal · 2025Review
- Neonatal presentation of a patient with Liddle syndrome, South Africa.African journal of laboratory medicine · 2023Article
- A Novel Frame-Shift Mutation inFrontiers in cardiovascular medicine · 2022Article
- Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases.NAR genomics and bioinformatics · 2020Article
- Analyses of epithelial NaThe Journal of biological chemistry · 2019Article
- Liddle Syndrome: Review of the Literature and Description of a New Case.International journal of molecular sciences · 2018Review
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 1 country.
Funding
Abstract
To comprehensively evaluate a European-American child with severe hypertension, whole-exome sequencing (WES) was performed on the child and parents, which identified causal variation of the proband's early-onset disease. The proband's hypertension was resistant to treatment, requiring a multiple drug regimen including amiloride, spironolactone, and hydrochlorothiazide. We suspected a monogenic form of hypertension because of the persistent hypokalemia with low plasma levels of renin and aldosterone. To address this, we focused on rare functional variants and indels, and performed gene-based tests incorporating linkage scores and allele frequency and filtered on deleterious functional mutations. Drawing upon clinical presentation, 27 genes were selected evidenced to cause monogenic hypertension and matched to the gene-based results. This resulted in the identification of a stop-gain mutation in an epithelial sodium channel (ENaC),
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Registered trials
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