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 language | English |
|---|---|
| Pages (from-to) | 2379-2382 |
| Number of pages | 4 |
| Journal | Journal of Hypertension |
| Volume | 20 |
| Issue number | 12 |
| DOIs | |
| Publication status | Published - Dec 1 2002 |
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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 journal › Article
}
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
C2 - 12473861
AN - SCOPUS:0036910610
VL - 20
SP - 2379
EP - 2382
JO - Journal of Hypertension
JF - Journal of Hypertension
SN - 0263-6352
IS - 12
ER -