Title of article :
Familial atrial septal defect in the oval fossa with progressive prolongation of the atrioventricular conduction caused by mutations in the NKX2.5 gene
Author/Authors :
Bjornstad، Per G. نويسنده , , Leren، Trond P. نويسنده ,
Issue Information :
روزنامه با شماره پیاپی سال 2009
Abstract :
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 Disease , genetics , dominant inheritance , familial occurrence
Journal title :
Cardiology in the Young
Journal title :
Cardiology in the Young