A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome

Abstract excerpt

Liddle syndrome is an autosomal dominant form of hypokalemic hypertension due to mutations in the β - or γ -subunit of the epithelial sodium channel (ENaC). Here, we describe a family with Liddle syndrome due to a mutation in α ENaC. The proband was referred because of resistant hypokalemic hypertension, suppressed renin and aldosterone, and no mutations in the genes encoding β - or γ ENaC. Exome sequencing...