A family with Liddle's syndrome caused by a new c.1721 deletion mutation in the epithelial sodium channel -subunit

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.