A novel frameshift mutation of epithelial sodium channel β-subunit leads to Liddle syndrome in an isolated case

2015 ◽  
Vol 82 (4) ◽  
pp. 611-614 ◽  
Author(s):  
Kun-Qi Yang ◽  
Chao-Xia Lu ◽  
Yan Xiao ◽  
Ya-Xin Liu ◽  
Xiong-Jing Jiang ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Frameshift Mutation ◽  
Epithelial Sodium Channel ◽  
Β Subunit ◽  
Liddle Syndrome

A frameshift mutation of β subunit of epithelial sodium channel in a case of isolated Liddle syndrome

2002 ◽  
Vol 20 (12) ◽  
pp. 2379-2382 ◽  
Author(s):  
Yukiko Nakano ◽  
Takafumi Ishida ◽  
Ryoji Ozono ◽  
Hideo Matsuura ◽  
Yuji Yamamoto ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Frameshift Mutation ◽  
Epithelial Sodium Channel ◽  
Β Subunit ◽  
Liddle Syndrome

scholarly journals Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome

2016 ◽  
Vol 2 (6) ◽  
pp. a001255 ◽  
Author(s):  
Linda M. Polfus ◽  
Eric Boerwinkle ◽  
Richard A. Gibbs ◽  
Ginger Metcalf ◽  
Donna Muzny ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Early Onset ◽  
Epithelial Sodium Channel ◽  
Β Subunit ◽  
Liddle Syndrome ◽  
Whole Exome

Liddle syndrome caused by P616R mutation of the epithelial sodium channel β subunit

2005 ◽  
Vol 20 (6) ◽  
pp. 837-838 ◽  
Author(s):  
Andrzej Ciechanowicz ◽  
Zdenek Dolezel ◽  
Grzegorz Placha ◽  
Jiri Starha ◽  
Jarosław Góra ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Epithelial Sodium Channel ◽  
Β Subunit ◽  
Liddle Syndrome

A novel nonsense mutation in the β-subunit of the epithelial sodium channel causing Liddle syndrome

2021 ◽  
pp. 1-9
Author(s):  
Štěpán Mareš ◽  
Jan Filipovský ◽  
Kateřina Vlková ◽  
Martin Pešta ◽  
Václava Černá ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Nonsense Mutation ◽  
Epithelial Sodium Channel ◽  
Β Subunit ◽  
Liddle Syndrome

scholarly journals LIDDLE SYNDROME DUE TO A NOVEL C.1713 DELETION IN THE EPITHELIAL SODIUM CHANNEL Β-SUBUNIT IN A NORMOTENSIVE ADOLESCENT

2020 ◽  
Author(s):  
Raven K. Brower ◽  
Ida A. Ghlichloo ◽  
Venus Shabgahi ◽  
Daniel Elsholz ◽  
Ram K. Menon ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Epithelial Sodium Channel ◽  
Β Subunit ◽  
Liddle Syndrome

scholarly journals Truncated Epithelial Sodium Channel β Subunit Responsible for Liddle Syndrome in a Chinese Family

2019 ◽  
Vol 44 (5) ◽  
pp. 942-949
Author(s):  
Peng Fan ◽  
Chao-Xia Lu ◽  
Kun-Qi Yang ◽  
Pei-Pei Lu ◽  
Su-Fang Hao ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Sodium Channel ◽  
Frameshift Mutation ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Epithelial Sodium Channel ◽  
Chinese Family ◽  
Liddle Syndrome ◽  
Direct Dna Sequencing ◽  
Py Motif

Background/Aims: Liddle syndrome (LS) is a rare autosomal dominant disease caused by mutations in genes coding for epithelial sodium channel (ENaC) subunits. The aim of this study was to identify the mutation responsible for the LS in an extended Chinese family. Methods: DNA samples from the proband with early-onset, treatment-resistant hypertension, and hypokalemia and 19 additional relatives were all sequenced for mutations in exon 13 of the β-ENaC and γ-ENaC genes, using amplification by polymerase chain reaction and direct DNA sequencing. Results: Genetic testing of exon 13 of SCNN1B revealed duplication of guanine into a string of 3 guanines located at codon 602. This frameshift mutation is predicted to generate a premature stop codon at position 607, resulting in truncated β-ENaC lacking the remaining 34 amino acids, including the crucial PY motif. Among a total of 9 participants with the identical mutation, different phenotypes were identified. Tailored treatment with amiloride was safe and effective in alleviating disease symptoms in LS. No mutation of SCNN1G was identified in any of the examined participants. Conclusions: We report here a family affected by LS harboring a frameshift mutation (c.1806dupG) with a premature stop codon deleting the PY motif of β-ENaC. Our study demonstrates that the earlier LS patients are diagnosed by genetic testing and treated with tailored medication, the greater the likelihood of preventing or minimizing complications in the vasculature and target organs.

A novel epithelial sodium channel γ-subunit de novo frameshift mutation leads to Liddle syndrome

2007 ◽  
Vol 67 (5) ◽  
pp. 801-804 ◽  
Author(s):  
Yibo Wang ◽  
Yi Zheng ◽  
Jinxing Chen ◽  
Haiying Wu ◽  
Deyu Zheng ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Frameshift Mutation ◽  
De Novo ◽  
Epithelial Sodium Channel ◽  
Liddle Syndrome ◽  
Γ Subunit

Differential Regulation of the Epithelial Sodium Channel (ENaC) in Rat Kidney, Lung and Distal Colon in Response to Aldosterone.

Hypertension ◽  
2000 ◽  
Vol 36 (suppl_1) ◽  
pp. 724-724
Author(s):  
Shyama M E Masilamani ◽  
Gheun-Ho Kim ◽  
Mark A Knepper
Keyword(s):  
Sodium Channel ◽  
Epithelial Sodium Channel ◽  
Distal Colon ◽  
Β Subunit ◽  
Dietary Salt ◽  
Α Subunit ◽  
Salt Restriction ◽  
Γ Subunit ◽  
Dietary Salt Restriction ◽  
Epithelial Sodium Channel Enac

P170 The mineralocorticoid hormone, aldosterone increases renal tubule Na absorption via increases in the protein abundances of the α-subunit of the epithelial sodium channel (ENaC) and the 70 kDa form of the γ- subunit of ENaC (JCI 104:R19-R23). This study assesses the affect of dietary salt restriction on the regulation of the epithelial sodium channel (ENaC) in the lung and distal colon, in addition to kidney, using semiquantitative immunoblotting. Rats were placed initially on either a control Na intake (0.02 meq/day), or a low Na intake (0.2 meq/day) for 10 days. The low salt treated rats demonstrated an increase in plasma aldosterone levels at day 10 (control = 0.78 + 0.32 nM; Na restricted = 3.50 + 1.30 nM). In kidney homogenates, there were marked increases in the band density of the α-subunit of ENaC (286 % of control) and the 70 kDa form of γ-subunit of ENaC (262 % of control), but no increase in the abundance of the β-subunit of ENaC. In lung homogenates, there was no significant change in the band densities of the α, β, or γ subunits of ENaC. In distal colon, there was an increase in the band density of the β-subunit of ENaC (311 % of control) and an increase in both the 85 kDa (2355% of control) and 70 kDa (843 % of control) form of the γ subunit of ENaC in response to dietary Na restriction. However, there was no significant difference in the band density of the α-subunit of ENaC. These findings demonstrate tissue specific regulation of the three subunits of ENaC in response to dietary salt restriction.

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