Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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A family with NKX2.5 gene mutations presenting as familial atrial septal defect and atrioventricular block: A case report

  • Choi, Youn Young (Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine) ;
  • Woo, Min Hyung (Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine) ;
  • Kim, Gi Beom (Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine) ;
  • Song, Mi Kyoung (Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine) ;
  • Lee, Sang Yoon (Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine) ;
  • Bae, Eun Jung (Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine) ;
  • Choi, Murim (Department of Biomedical Sciences, Seoul National University College of Medicine) ;
  • Kim, Young-Sook (Computational Biology & Bioinformatics Graduate Program, Duke University)
  • Received : 2018.05.11
  • Accepted : 2018.06.05
  • Published : 2018.06.30
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Abstract

Point mutations in the human cardiac homeobox gene NKX2.5 are associated with familial atrial septal defect (ASD), atrioventricular (AV) conduction disturbance, as well as sudden cardiac death. To date, more than 60 NKX2.5 mutations have been documented, but there are no reports in Korea. We are reporting the first Korean family with ASD and AV block associated with a novel mutation in the NKX2.5 coding region. A 9-year-old boy presented with a slow and irregular pulse, and was diagnosed with secundum ASD and first degree AV block. The boy's father, who had a history of ASD correction surgery, presented with second degree AV block and atrial fibrillation. The boy's brother was also found to have secundum ASD and first degree AV block. There were two sudden deaths in the family. Genetic testing revealed a novel mutation of NKX2.5 in all affected members of the family.

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References

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