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. 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 the regulatory domain of the connexin43 gene are rare in patients with visceroatrial heterotaxy.