PMC7924163_01
Differential diagnoses in a patient with long-term hypokalemia.
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Based on her clinical presentation and further workup, differential diagnoses, including AME, congenital adrenal hyperplasia (11beta-hydroxylase and 17alpha-hydroxylase deficiency), and Geller syndrome (Fig. 1) were ruled out.
Location of novel c.1713 deletion resulting in Liddle syndrome. A, The predicted organization of human epithelial sodium channels (ENaCs) created in PyMOL (Protein Data Bank 6BQN) and based on the cryo-electron microscopy of human ENaC.B, The amino acid sequence of the intracellular domain deletion in ENaC. The start of the intracellular segment is highlighted in green, our novel nonsense mutation in SCNN1B is highlighted in red, and the proline-tyrosine motif is highlighted in yellow.
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This revealed a novel c.1713delC (p.Tyr571) mutation in SCNN1B, resulting in the premature termination of the SCNN1B protein product, ENaC beta-subunit (Fig. 2).