A novel nonsense mutation in the β-subunit of the epithelial sodium channel causing Liddle syndrome

Abstrakt

Liddle syndrome is a hereditary form of arterial hypertension caused by mutations in the genes encoding the epithelial sodium channel's α-, β- and γ-subunit. It is usually manifested by early onset of hypertension accompanied by low potassium and aldosterone levels.

We performed a physical examination, laboratory tests and genetic screening in 13 members of a Czech family. We found a new mutation of the SCNN1B gene which encodes the β-subunit of the epithelial sodium channel.

We describe the variability of each family member phenotype and point out the relevance of using aldosterone levels as a high sensitivity marker of Liddle syndrome in Caucasians.

Klíčová slova

• Aldosterone
• β-subunit
• ENaC
• hypertension
• Liddle syndrome
• nonsense mutation
• SCNN1B