Key result
Mutation screening of the connexin43 gene regulatory domain in 48 patients with visceroatrial heterotaxy revealed no mutations compared to the consensus sequence.
Why the study?
Are mutations in the regulatory domain of connexin 43 common in patients with visceroatrial heterotaxy?
Cross-Sectional (n=48)
Yes
Are mutations in the regulatory domain of connexin 43 common in patients with visceroatrial heterotaxy?
Germline mutations in the regulatory domain of connexin 43 are rare and likely not a major genetic cause of visceroatrial heterotaxy.
Connexin43 regulatory screening not indicated in heterotaxy; leaves open other genetic contributors.
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.
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Splitt et al. (1997) conducted a cross-sectional in Visceroatrial heterotaxy (n=48). Mutation screening of the connexin43 gene vs. Published connexin43 consensus sequence was evaluated on Frequency of mutations in the regulatory domain of the gap junction protein connexin 43. Mutation screening of the connexin43 gene regulatory domain in 48 patients with visceroatrial heterotaxy revealed no mutations compared to the consensus sequence.
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