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. DESIGN Mutation screening of the terminal 200 base pairs of connexin43 gene coding sequence in a series of patients from tertiary care centres. PATIENTS 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.