title: Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy.
abstract: OBJECTIVE
  To determine the frequency of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy.
  
  
  METHODS
  Mutation screening of the terminal 200 base pairs of connexin43 gene coding sequence in a series of patients from tertiary care centres.
  
  
  METHODS
  48 patients with visceroatrial heterotaxy attending UK Regional Paediatric Cardiology Centres.
  
  
  RESULTS
  No changes from the published connexin43 consensus sequence were found in any of the 48 patients studied.
  
  
  CONCLUSIONS
  Germline mutations of the phosphorylation sites in teh regulatory domain of the connexin43 gene are rare in patients with visceroatrial heterotaxy.
authors.affiliation: Department of Human Genetics, University of Newcastle upon Tyne, United Kingdom.
authors.forename: M
authors.initials: M
authors.lastname: Penman Splitt
authors.forename: M Y
authors.initials: MY
authors.lastname: Tsai
authors.forename: J
authors.initials: J
authors.lastname: Burn
authors.forename: J A
authors.initials: JA
authors.lastname: Goodship
mesh_terms: D001483:Base Sequence; D018031:Connexin 43 / Q000235:genetics*; D005809:Genes, Regulator; D018095:Germ-Line Mutation; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D018031:Connexin 43