A family with NKX2.5 gene mutations presenting as familial atrial septal defect and atrioventricular block: A case report

Choi, Youn Young; Woo, Min Hyung; Kim, Gi Beom; Song, Mi Kyoung; Lee, Sang Yoon; Bae, Eun Jung; Choi, Murim; Kim, Young-Sook

추천

검색

자료유형: 학술저널

저자정보: 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)

저널정보: 대한의학유전학회 Journal of genetic medicine Journal of genetic medicine 제15권 제1호

발행연도: 2018.1

수록면: 20 - 23 (4page)

이용수

📌

연구주제

📖

연구배경

🔬

연구방법

🏆

연구결과

초록· 키워드

오류제보하기

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.

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

참고문헌 (11)

참고문헌 신청

Schott JJ / 1998 / Congenital heart disease caused by mutations in the transcription factor NKX2-5 / Science 281:108~111

Ellesoe SG / 2016 / Familial atrial septal defect and sudden cardiac death: identification of a novel NKX2-5 mutation and a review of the literature / Congenit Heart Dis 11:283~290

McElhinney DB / 2003 / NKX2.5 mutations in patients with congenital heart disease / J Am Coll Cardiol 42:1650~1655

Akazawa H / 2005 / Cardiac transcription factor Csx/Nkx2-5: its role in cardiac development and diseases / Pharmacol Ther 107:252~268

Hirayama-Yamada K / 2005 / Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect / Am J Med Genet A 135:47~52

함께 읽어보면 좋을 논문

논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!