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Familial atrial septal defect in the oval fossa with progressive prolongation of the atrioventricular conduction caused by mutations in the NKX2.5 gene

Published online by Cambridge University Press:  02 December 2008

Per G. Bjørnstad  and
Trond P. Leren
Per G. Bjørnstad*
Affiliation:
Dept of Paediatric Cardiology and, Rikshospitalet University Hospital, Oslo, Norway
Trond P. Leren
Affiliation:
Dept of Medical Genetics, Rikshospitalet University Hospital, Oslo, Norway
*
Correspondence to: Per G. Bjørnstad, MD. Ph.D., Paediatric Cardiology, Rikshospitalet University Hospital, N-0027 Oslo, Norway. Tel/Fax: +47 2 232 2547; E-mail: perbjo@broadpark.no
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Abstract

Objective

To search for a genetic basis in a family with autosomal dominantly inherited atrial septal defect in combination with increasing conduction anomalies.

Design

We searched for mutations in the NKX2.5 gene by sequencing of desoxyribonucleic acid in a previously investigated family.

Patients

All family members were included if they, after informed consent, had decided to participate in the genetic testing. A blood sample was sent from local doctors for analysis of potential mutations. Patients with cardiac anomalies were examined in our hospital. For those family members without cardiac anomalies, we relied on local information.

Results

We identified the mutation Q149X in the NKX2.5 gene on chromosome 5q35 in all patients with atrial septal defect and disturbances of atrioventricular conduction. No family member without an atrial septal defect possessed the mutation, including a member with transposed arterial trunks.

Conclusion

We have identified a mutation in the NKX2.5 gene responsible for autosomal dominantly inherited atrial septal defect in the oval fossa combined with disturbances of atrioventricular conduction in 7 patients spanning 4 generations.

Keywords

Congenital heart diseasegeneticsfamilial occurrencedominant inheritance
Type
Original Article
Information
Cardiology in the Young , Volume 19 , Issue 1 , February 2009 , pp. 40 - 44
Copyright
Copyright © Cambridge University Press 2008

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