Publication: A novel mutation in the β-subunit of the epithelial sodium channel gene (SCNN1B) in a Thai family with Liddle's syndrome
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Issued Date
2009-01-01
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ISSN
0334018X
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2-s2.0-61849180755
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Mahidol University
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SCOPUS
Bibliographic Citation
Journal of Pediatric Endocrinology and Metabolism. Vol.22, No.1 (2009), 85-89
Suggested Citation
Pairunyar Sawathiparnich, Achra Sumboonnanonda, Praewvarin Weerakulwattana, Chanin Limwongse A novel mutation in the β-subunit of the epithelial sodium channel gene (SCNN1B) in a Thai family with Liddle's syndrome. Journal of Pediatric Endocrinology and Metabolism. Vol.22, No.1 (2009), 85-89. Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/27336
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Title
A novel mutation in the β-subunit of the epithelial sodium channel gene (SCNN1B) in a Thai family with Liddle's syndrome
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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 β- and γ-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 β-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. © Freund Publishing House Ltd., London.