SCNN1B and Liddle syndrome: In conclusion, we have identified a novel frame-shift mutation in the β subunit of ENaC in a Chinese family with Liddle syndrome by whole-exome sequencing, further refining the known genetic mutations of SCNN1B. Patients with Liddle syndrome may be misdiagnosed when diagnosis is based on clinical or biochemical characteristics alone because of the existence of phenotypic heterogeneity.