title: A frameshift mutation of beta 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 beta or gamma 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 beta or gamma 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 beta 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.
  
  
  CONCLUSIONS
  This mutation is carried by neither parent (with paternity proven) and hence confirms this has occurred as a event within this family.
authors.affiliation: Department of Medicine and Molecular Science, Hiroshima University Graduate School of Medicine, Japan. nakanoy@hiroshima-u.ac.jp
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Nakano
authors.forename: Takafumi
authors.initials: T
authors.lastname: Ishida
authors.forename: Ryoji
authors.initials: R
authors.lastname: Ozono
authors.forename: Hideo
authors.initials: H
authors.lastname: Matsuura
authors.forename: Yuji
authors.initials: Y
authors.lastname: Yamamoto
authors.forename: Masayuki
authors.initials: M
authors.lastname: Kambe
authors.forename: Kazuaki
authors.initials: K
authors.lastname: Chayama
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Oshima
mesh_terms: D000293:Adolescent; D000471:Alkalosis / Q000235:genetics*; D000595:Amino Acid Sequence / Q000235:genetics; D001483:Base Sequence / Q000235:genetics; D053503:Epithelial Sodium Channels; D005260:Female; D016368:Frameshift Mutation; D005799:Genes, Dominant; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D007008:Hypokalemia / Q000235:genetics*; D008969:Molecular Sequence Data; D015222:Sodium Channels / Q000235:genetics*; D013577:Syndrome
chemical_list: D053503:Epithelial Sodium Channels; C507048:SCNN1B protein, human; D015222:Sodium Channels