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

Yukiko Nakano, Takafumi Ishida, Ryoji Ozono, Hideo Matsuura, Yuji Yamamoto, Masayuki Kambe, Kazuaki Chayama, Tetsuya Oshima

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

Background: Liddle syndrome is an autosomal dominant form of salt-sensitive hypertension caused by mutations in the epithelial sodium channel expressed in the distal nephron playing an essential role in Na+ absorption. All reported mutations in Liddle syndrome are either missense mutations or frameshift mutations destroying the PY motif closer to the C-terminus of the β or γ subunits causing the situation that the epithelial sodium channels are not degraded and sodium is pooled and thus hypertension and hypokalemia are caused. Methods: We sequenced the C-terminus of the β or γ subunits of the epithelial sodium channel in a Japanese family of a patient clinically diagnosed as having Liddle syndrome. Results: As a result, we found in the proband, a frameshift mutation of the β subunit caused by a single cytosine insertion at the codon 595, introducing a new stop codon at 605 and deleting the last 34 amino acids from the normally encoded protein. Conclusion: This mutation is carried by neither parent (with paternity proven) and hence confirms this has occurred as a de novo event within this family.

Original languageEnglish
Pages (from-to)2379-2382
Number of pages4
JournalJournal of Hypertension
Volume20
Issue number12
DOIs
Publication statusPublished - Dec 1 2002

Fingerprint

Liddle Syndrome
Epithelial Sodium Channels
Frameshift Mutation
Mutation
Hypertension
Paternity
Hypokalemia
Terminator Codon
Cytosine
Nephrons
Missense Mutation
Codon
Salts
Sodium
Amino Acids
Proteins

Keywords

  • β subunit
  • Epithelial sodium channel
  • Hypertension
  • Liddle syndrome
  • Mutation

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology

Cite this

A frameshift mutation of β subunit of epithelial sodium channel in a case of isolated Liddle syndrome. / Nakano, Yukiko; Ishida, Takafumi; Ozono, Ryoji; Matsuura, Hideo; Yamamoto, Yuji; Kambe, Masayuki; Chayama, Kazuaki; Oshima, Tetsuya.

In: Journal of Hypertension, Vol. 20, No. 12, 01.12.2002, p. 2379-2382.

Research output: Contribution to journalArticle

Nakano, Yukiko ; Ishida, Takafumi ; Ozono, Ryoji ; Matsuura, Hideo ; Yamamoto, Yuji ; Kambe, Masayuki ; Chayama, Kazuaki ; Oshima, Tetsuya. / A frameshift mutation of β subunit of epithelial sodium channel in a case of isolated Liddle syndrome. In: Journal of Hypertension. 2002 ; Vol. 20, No. 12. pp. 2379-2382.
@article{1621149dfd0c469ea00189b46e6ae8ae,
title = "A frameshift mutation of β subunit of epithelial sodium channel in a case of isolated Liddle syndrome",
abstract = "Background: Liddle syndrome is an autosomal dominant form of salt-sensitive hypertension caused by mutations in the epithelial sodium channel expressed in the distal nephron playing an essential role in Na+ absorption. All reported mutations in Liddle syndrome are either missense mutations or frameshift mutations destroying the PY motif closer to the C-terminus of the β or γ subunits causing the situation that the epithelial sodium channels are not degraded and sodium is pooled and thus hypertension and hypokalemia are caused. Methods: We sequenced the C-terminus of the β or γ subunits of the epithelial sodium channel in a Japanese family of a patient clinically diagnosed as having Liddle syndrome. Results: As a result, we found in the proband, a frameshift mutation of the β subunit caused by a single cytosine insertion at the codon 595, introducing a new stop codon at 605 and deleting the last 34 amino acids from the normally encoded protein. Conclusion: This mutation is carried by neither parent (with paternity proven) and hence confirms this has occurred as a de novo event within this family.",
keywords = "β subunit, Epithelial sodium channel, Hypertension, Liddle syndrome, Mutation",
author = "Yukiko Nakano and Takafumi Ishida and Ryoji Ozono and Hideo Matsuura and Yuji Yamamoto and Masayuki Kambe and Kazuaki Chayama and Tetsuya Oshima",
year = "2002",
month = "12",
day = "1",
doi = "10.1097/00004872-200212000-00016",
language = "English",
volume = "20",
pages = "2379--2382",
journal = "Journal of Hypertension",
issn = "0263-6352",
publisher = "Lippincott Williams and Wilkins",
number = "12",

}

TY - JOUR

T1 - A frameshift mutation of β subunit of epithelial sodium channel in a case of isolated Liddle syndrome

AU - Nakano, Yukiko

AU - Ishida, Takafumi

AU - Ozono, Ryoji

AU - Matsuura, Hideo

AU - Yamamoto, Yuji

AU - Kambe, Masayuki

AU - Chayama, Kazuaki

AU - Oshima, Tetsuya

PY - 2002/12/1

Y1 - 2002/12/1

N2 - Background: Liddle syndrome is an autosomal dominant form of salt-sensitive hypertension caused by mutations in the epithelial sodium channel expressed in the distal nephron playing an essential role in Na+ absorption. All reported mutations in Liddle syndrome are either missense mutations or frameshift mutations destroying the PY motif closer to the C-terminus of the β or γ subunits causing the situation that the epithelial sodium channels are not degraded and sodium is pooled and thus hypertension and hypokalemia are caused. Methods: We sequenced the C-terminus of the β or γ subunits of the epithelial sodium channel in a Japanese family of a patient clinically diagnosed as having Liddle syndrome. Results: As a result, we found in the proband, a frameshift mutation of the β subunit caused by a single cytosine insertion at the codon 595, introducing a new stop codon at 605 and deleting the last 34 amino acids from the normally encoded protein. Conclusion: This mutation is carried by neither parent (with paternity proven) and hence confirms this has occurred as a de novo event within this family.

AB - Background: Liddle syndrome is an autosomal dominant form of salt-sensitive hypertension caused by mutations in the epithelial sodium channel expressed in the distal nephron playing an essential role in Na+ absorption. All reported mutations in Liddle syndrome are either missense mutations or frameshift mutations destroying the PY motif closer to the C-terminus of the β or γ subunits causing the situation that the epithelial sodium channels are not degraded and sodium is pooled and thus hypertension and hypokalemia are caused. Methods: We sequenced the C-terminus of the β or γ subunits of the epithelial sodium channel in a Japanese family of a patient clinically diagnosed as having Liddle syndrome. Results: As a result, we found in the proband, a frameshift mutation of the β subunit caused by a single cytosine insertion at the codon 595, introducing a new stop codon at 605 and deleting the last 34 amino acids from the normally encoded protein. Conclusion: This mutation is carried by neither parent (with paternity proven) and hence confirms this has occurred as a de novo event within this family.

KW - β subunit

KW - Epithelial sodium channel

KW - Hypertension

KW - Liddle syndrome

KW - Mutation

UR - http://www.scopus.com/inward/record.url?scp=0036910610&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0036910610&partnerID=8YFLogxK

U2 - 10.1097/00004872-200212000-00016

DO - 10.1097/00004872-200212000-00016

M3 - Article

VL - 20

SP - 2379

EP - 2382

JO - Journal of Hypertension

JF - Journal of Hypertension

SN - 0263-6352

IS - 12

ER -