A Missense Mutation in the Extracellular Domain of αENaC Causes Lid...

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This article describes a gain of function mutation in the gene that codes for the alpha subunit of the epithelial sodium channel (ENaC), cuasing Liddle Syndrome (hypertension, hypokalemia and suppressed renin and aldosterone). The most common forms of Liddle syndrome involve mutations affecting the beta or gamma subnits of the ENaC

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Salih, Mahdi, Ivan Gautschi, Miguel X. van Bemmelen, Michael Di Benedetto, Alice S. Brooks, Dorien Lugtenberg, Laurent Schild and Ewout J. Hoorn. “A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome." Journal of the American Society of Nephrology 28, no. 11 (2017): 3291-3299. doi: https://doi.org/10.1681/ASN.2016111163

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

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