scholarly journals A Novel Missense Mutation of the Beta Subunit of the Epithelial Sodium Channel (P617l) Identified in a Patient with Liddle Syndrome

2007 ◽  
Vol 14 (3) ◽  
pp. 145-196
Author(s):  
E Rossi ◽  
E Farnetti ◽  
D Nicoli ◽  
C Grasselli ◽  
G Regolisti ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Missense Mutation ◽  
Epithelial Sodium Channel ◽  
Beta Subunit ◽  
Liddle Syndrome

A Family with Liddle Syndrome Caused by a Novel Missense Mutation in the PY Motif of the Beta-Subunit of the Epithelial Sodium Channel

2013 ◽  
Vol 162 (1) ◽  
pp. 166-170 ◽  
Author(s):  
Linggen Gao ◽  
Linping Wang ◽  
Yaxin Liu ◽  
Xianliang Zhou ◽  
Rutai Hui ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Missense Mutation ◽  
Epithelial Sodium Channel ◽  
Beta Subunit ◽  
Liddle Syndrome ◽  
Py Motif

scholarly journals Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene.

1996 ◽  
Vol 97 (7) ◽  
pp. 1780-1784 ◽  
Author(s):  
H Tamura ◽  
L Schild ◽  
N Enomoto ◽  
N Matsui ◽  
F Marumo ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Missense Mutation ◽  
Epithelial Sodium Channel ◽  
Beta Subunit ◽  
Channel Gene ◽  
Sodium Channel Gene

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

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

scholarly journals A Family with Liddle’s Syndrome Caused by a New Missense Mutation in the β Subunit of the Epithelial Sodium Channel

1998 ◽  
Vol 83 (6) ◽  
pp. 2210-2213 ◽  
Author(s):  
Junnosuke Inoue ◽  
Taisuke Iwaoka ◽  
Hiroshi Tokunaga ◽  
Kazufumi Takamune ◽  
Shojiro Naomi ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Missense Mutation ◽  
Sodium Current ◽  
Epithelial Sodium Channel ◽  
Missense Mutations ◽  
Β Subunit ◽  
Dominant Form ◽  
Liddle’S Syndrome ◽  
Liddle's Syndrome ◽  
Py Motif

Liddle’s syndrome is an autosomal dominant form of salt sensitive hypertension caused by mutations in the β or γ subunit of the epithelial sodium channel. Systemic mutagenesis studies revealed that a conserved PPPXY sequence (PY motif) of the C-terminus of the α, β, or γ subunits might be involved in the regulation of the channel activity. However, only two missense mutations in the PY motif of theβ subunit have been reported to cause Liddle’s syndrome. We sequenced the C-termini of the β and γ subunits of the epithelial sodium channel in a Japanese family clinically diagnosed as having Liddle’s syndrome and found a new missense mutation in the PY motif of the β subunit, P615S. Expression studies with P615S mutant in Xenopus oocytes resulted in an about 3-fold increase in the amiloride-sensitive sodium current compared to the wild type (p = 0.001). These findings provide further clinical evidence for the hypothesis that a conserved PY motif may be critically important for the regulation of the epithelial sodium channel.

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