Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy.
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.
Penman Splitt
M
M
Department of Human Genetics, University of Newcastle upon Tyne, United Kingdom.
Tsai
M Y
MY
Burn
J
J
Goodship
J A
JA
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
D018031:Connexin 43