ArticleExperimental and therapeutic medicine2019
A family with Liddle's syndrome caused by a new c.1721 deletion mutation in the epithelial sodium channel β-subunit.
Article in Experimental and therapeutic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
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4 citing papers in PubMed, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.
- A frameshift mutation in theMolecular medicine reports · 2024Pooled it
- Challenges in diagnosing and treating Liddle syndrome in resource-limited settings: A case report from Indonesia.Narra J · 2024Article
- Summary of Known Genetic and Epigenetic Modification Contributed to Hypertension.International journal of hypertension · 2023Review
- A Novel Frame-Shift Mutation inFrontiers in cardiovascular medicine · 2022Article
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Authors and funding
10 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
A 19-year-old male with early refractory hypertension, hypokalemia, serum potassium level of 3.4 mmol/l and hypoaldosteronemia was indicated in the present study. According to the results of laboratory tests and examinations, the patient was suspected of having Liddle's syndrome (LS). Genetic analysis of SCNN1B revealed a deletion mutation (c.1721delC). This mutation caused a length extension of SCNN1B coding sequence, which resulted in p.Pro574HisfsX675. A total of 34 family members were enrolled in the study and 29 of these family members underwent genetic testing. A total of 10 family members were clinically diagnosed with hypertension. Notably, 5 family members shared the same gene mutation as the proband and all cases with the mutation had hypertension. Blood pressure of the gene mutation carriers was well controlled by tailored treatment. In conclusion, a patient with early onset and refractory hypertension, hypokalemia and hypoaldosteronemia was diagnosed clinically and genetically with LS. Notably, a novel mutation (c.1721delC) was identified by DNA analysis. The present findings indicate that genetic analysis is useful, not only in the diagnosis of LS, but also in designing a tailored treatment.
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