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A family with NKX2.5 gene mutations presenting as familial atrial septal defect and atrioventricular block: A case report
J Genet Med 2018;15:20-23
Published online June 30, 2018;  https://doi.org/10.5734/JGM.2018.15.1.20
© 2018 Korean Society of Medical Genetics and Genomics.

Youn Young Choi1, Min Hyung Woo1, Gi Beom Kim1,*, Mi Kyoung Song1, Sang Yoon Lee1, Eun Jung Bae1, Murim Choi2, and Young-Sook Kim3,4

1Department of Pediatrics, Seoul National University Children’s Hospital, Seoul National University College of Medicine, Seoul, Korea
2Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea
3Computational Biology & Bioinformatics Graduate Program, Duke University, Durham, NC, USA
4Center for Genomic & Computational Biology, Duke University, Durham, NC, USA
Gi Beom Kim, M.D., Ph.D http://orcid.org/0000-0002-7880-280X
Department of Pediatrics, Seoul National University Children’s Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 03080, Korea.
Tel: +82-2-2072-0266, Fax: +82-2-743-3455, E-mail: ped9526@snu.ac.kr
Received May 11, 2018; Revised June 4, 2018; Accepted June 5, 2018.
cc This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
Keywords : Homeobox protein Nkx-2.5, Atrial heart septal defects, Atrioventricular block.


June 2018, 15 (1)
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