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  • Title: A novel mutation in the beta-subunit of the epithelial sodium channel gene (SCNN1B) in a Thai family with Liddle's syndrome.
    Author: Sawathiparnich P, Sumboonnanonda A, Weerakulwattana P, Limwongse C.
    Journal: J Pediatr Endocrinol Metab; 2009 Jan; 22(1):85-9. PubMed ID: 19344079.
    Abstract:
    Liddle's syndrome is a rare form of autosomal dominant hypertension with early penetrance and cardiovascular sequelae. It is caused by missense or frameshift mutations in the epithelial sodium channel (ENaC) gene resulting in excessive salt and water resorption from the distal nephron, volume expansion, and suppression of plasma renin activity and serum aldosterone secretion. Treatment with an antagonist of the amiloride-sensitive ENaC, amiloride or triamterine, can correct hypertension and biochemical abnormalities in Liddle's syndrome by closing the sodium channels. Missense and truncation mutations at the C-terminus of the ENaC gene have been found in two of the three genes encoding beta- and gamma-subunits of ENaC. We report here a Thai family with Liddle's syndrome caused by a novel P615H missense mutation in the proline-rich domain of the SCNN1B gene coding for the beta-subunit of ENaC. This mutation occurs within the conserved proline-rich (PY) motif at the C-terminal end and emphasizes the critical role of this motif in ENaC internalization. The presence of severe hypertension and/or a suggestive family history of hypertension with or without hypokalemia in young children should always raise a suspicion of Liddle's syndrome.
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