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Journal of genetic medicine   v.15 no.1, 2018년, pp.20 - 23   KCI
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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  );
  • 초록

    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.


  • 주제어

    Homeobox protein Nkx-2  . 5  . Atrial heart septal defects  . Atrioventricular block  .

  • 참고문헌 (11)

    1. Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 1998;281:108-11. 
    2. Ellesoe SG, Johansen MM, Bjerre JV, Hjortdal VE, Brunak S, Larsen LA. Familial atrial septal defect and sudden cardiac death: identification of a novel NKX2-5 mutation and a review of the literature. Congenit Heart Dis 2016;11:283-90. 
    3. McElhinney DB, Geiger E, Blinder J, Benson DW, Goldmuntz E. NKX2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol 2003;42:1650-5. 
    4. Akazawa H, Komuro I. Cardiac transcription factor Csx/Nkx2-5: its role in cardiac development and diseases. Pharmacol Ther 2005;107:252-68. 
    5. Hirayama-Yamada K, Kamisago M, Akimoto K, Aotsuka H, Nakamura Y, Tomita H, et al. Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. Am J Med Genet A 2005;135:47-52. 
    6. Rijnbeek PR, Witsenburg M, Schrama E, Hess J, Kors JA. New normal limits for the paediatric electrocardiogram. Eur Heart J 2001;22:702-11. 
    7. Dentice M, Cordeddu V, Rosica A, Ferrara AM, Santarpia L, Salvatore D, et al. Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. J Clin Endocrinol Metab 2006;91:1428-33. 
    8. van Engelen K, Mommersteeg MT, Baars MJ, Lam J, Ilgun A, van Trotsenburg AS, et al. The ambiguous role of NKX2-5 mutations in thyroid dysgenesis. PLoS One 2012;7:e52685. 
    9. Pashmforoush M, Lu JT, Chen H, Amand TS, Kondo R, Pradervand S, et al. Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block. Cell 2004;117:373-86. 
    10. Maury P, Gandjbakhch E, Baruteau AE, Bessiere F, Kyndt F, Bouvagnet P, et al. Cardiac phenotype and long-term follow-up of patients with mutations in NKX2-5 gene. J Am Coll Cardiol 2016;68:2389-90. 
    11. Gelernter-Yaniv L, Lorber A. The familial form of atrial septal defect. Acta Paediatr 2007;96:726-30. 

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