caa a22 4500 445826126 CHVBK 20180317145259.0 cr unu---uuuuu 170323e20110201xx s 000 0 eng 10.1007/s00246-010-9859-6 doi (NATIONALLICENCE)springer-10.1007/s00246-010-9859-6 Novel NKX2-5 Mutations in Patients With Familial Atrial Septal Defects [Elektronische Daten] [Xing-Yuan Liu, Juan Wang, Yi-Qing Yang, Yang-Yang Zhang, Xiao-Zhong Chen, Wei Zhang, Xiao-Zhou Wang, Jing-Hao Zheng, Yi-Han Chen] Atrial septal defect (ASD) is a common cardiovascular malformation and an important contributor to substantial morbidity and mortality. Increasing evidence demonstrates that mutated NKX2-5, a gene encoding a homeobox transcription factor crucial to cardiogenesis, is a significant genetic determinant for congenital ASD. Nevertheless, the genetic basis for ASD in a majority of ASD patients remains largely unknown. In the current study, the entire coding region of NKX2-5 was sequenced initially for 58 unrelated probands with familial ASD. The relatives of the probands harboring identified mutations and 200 unrelated control individuals were subsequently genotyped. Three novel heterozygous NKX2-5 mutations (p.P43GfsX59, p.C46W, and p.S179F) were identified respectively in three families with autosomal dominantly inherited ASD. These mutations, absent in 200 control individuals, cosegregated with ASD in the families that had complete penetrance. The findings expand the spectrum of mutations in NKX2-5 linked to ASD and contribute to genetic counseling, clinical interventions, and prenatal prevention of ASD for individuals with genetic susceptibility. Springer Science+Business Media, LLC, 2010 Atrial septal defect nationallicence Genetics nationallicence Transcription factor nationallicence Liu Xing-Yuan Department of Pediatrics, Tongji Hospital, Tongji University School of Medicine, Shanghai, China aut Wang Juan Department of Cardiology, East Hospital, Tongji University School of Medicine, Shanghai, China aut Yang Yi-Qing Department of Cardiovascular Research, Shanghai Chest Hospital, Medical College of Shanghai Jiaotong University, 241 West Huaihai Road, 200030, Shanghai, China aut Zhang Yang-Yang Department of Cardiology, First Affiliated Hospital of Nanjing Medical University, Nanjing, China aut Chen Xiao-Zhong Department of Cardiac Surgery, Shanghai Chest Hospital, Medical College of Shanghai Jiaotong University, Shanghai, China aut Zhang Wei Department of Cardiac Surgery, Shanghai Chest Hospital, Medical College of Shanghai Jiaotong University, Shanghai, China aut Wang Xiao-Zhou Department of Cardiac Surgery, Shanghai Chest Hospital, Medical College of Shanghai Jiaotong University, Shanghai, China aut Zheng Jing-Hao Department of Pediatric Thoracic and Cardiovascular Surgery, Shanghai Children's Medical Center, Medical College of Shanghai Jiaotong University, Shanghai, China aut Chen Yi-Han Department of Cardiology, East Hospital, Tongji University School of Medicine, Shanghai, China aut Pediatric Cardiology Springer-Verlag 32/2(2011-02-01), 193-201 0172-0643 32:2<193 2011 32 246 https://doi.org/10.1007/s00246-010-9859-6 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00246-010-9859-6 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Liu Xing-Yuan Department of Pediatrics, Tongji Hospital, Tongji University School of Medicine, Shanghai, China aut NATIONALLICENCE 700 1- Wang Juan Department of Cardiology, East Hospital, Tongji University School of Medicine, Shanghai, China aut NATIONALLICENCE 700 1- Yang Yi-Qing Department of Cardiovascular Research, Shanghai Chest Hospital, Medical College of Shanghai Jiaotong University, 241 West Huaihai Road, 200030, Shanghai, China aut NATIONALLICENCE 700 1- Zhang Yang-Yang Department of Cardiology, First Affiliated Hospital of Nanjing Medical University, Nanjing, China aut NATIONALLICENCE 700 1- Chen Xiao-Zhong Department of Cardiac Surgery, Shanghai Chest Hospital, Medical College of Shanghai Jiaotong University, Shanghai, China aut NATIONALLICENCE 700 1- Zhang Wei Department of Cardiac Surgery, Shanghai Chest Hospital, Medical College of Shanghai Jiaotong University, Shanghai, China aut NATIONALLICENCE 700 1- Wang Xiao-Zhou Department of Cardiac Surgery, Shanghai Chest Hospital, Medical College of Shanghai Jiaotong University, Shanghai, China aut NATIONALLICENCE 700 1- Zheng Jing-Hao Department of Pediatric Thoracic and Cardiovascular Surgery, Shanghai Children's Medical Center, Medical College of Shanghai Jiaotong University, Shanghai, China aut NATIONALLICENCE 700 1- Chen Yi-Han Department of Cardiology, East Hospital, Tongji University School of Medicine, Shanghai, China aut NATIONALLICENCE 773 0- Pediatric Cardiology Springer-Verlag 32/2(2011-02-01), 193-201 0172-0643 32:2<193 2011 32 246 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer