机构：[1]Natl Res Inst Family Planning, Ctr Genet, Beijing 100081, Peoples R China;[2]Peking Union Med Coll, Grad Sch, Beijing 100021, Peoples R China;[3]Capital Med Univ, Publ Cent Lab, Beijing Pediat Inst, Beijing Childrens Hosp, Beijing, Peoples R China;科研平台儿科研究所首都医科大学附属北京儿童医院[4]Huazhong Univ Sci & Technol, Key Lab Mol Biophys, Coll Life Sci & Technol, Wuhan 430074, Peoples R China;[5]Huazhong Univ Sci & Technol, Ctr Human Genome Res, Wuhan 430074, Peoples R China;[6]World Hlth Org, Collaborating Ctr Res Human Reprod, Beijing, Peoples R China;[7]Natl Res Inst Family Planning, Ctr Genet, 12 Dahuisi Rd, Beijing 100081, Peoples R China
Background: The HAND1 gene encodes a basic helix-loop-helix (bHLH) transcription factor which plays an essential role in the development of heart. Mutations in HAND1 have been identified in congenital heart disease (CHD) patients with hypoplastic hearts and septal defects. The spectrum of CHD relating to HAND1 mutations needs further study. Methods and results: We screened HAND1 coding regions for mutations in 498 Chinese patients with CHD and 250 control subjects. We identified two novel non-synonymous mutations, c.217G>A (p.Gly73Ser) and c.456G>T (p.Lys152Asn), in the patients with ventricular septal defect (VSD). The two mutations were located in HAND1 evolutionarily conserved residues and enhanced the capability of HAND1 to form homodimers. Conclusions: This is the first report of mutations in the HAND1 gene in Chinese patients with VSD and provides new insight into the etiology of VSD. (C) 2011 Published by Elsevier B.V.
基金：
National Basic Research Program of ChinaNational Basic Research Program of China [2010CB529505, 2010CB529504]; National Science & Technology Pillar Program of China [2008BAH24B05]; National Infrastructure Program of Chinese Genetic Resources [2006DKA21300]
第一作者机构：[2]Peking Union Med Coll, Grad Sch, Beijing 100021, Peoples R China;
通讯作者：
通讯机构：[1]Natl Res Inst Family Planning, Ctr Genet, Beijing 100081, Peoples R China;[2]Peking Union Med Coll, Grad Sch, Beijing 100021, Peoples R China;[7]Natl Res Inst Family Planning, Ctr Genet, 12 Dahuisi Rd, Beijing 100081, Peoples R China
推荐引用方式(GB/T 7714)：
Cheng Zhi,Lib Lin,Li Zhongzhi,et al.Two novel HAND1 mutations in Chinese patients with ventricular septal defect[J].CLINICA CHIMICA ACTA.2012,413(7-8):675-677.doi:10.1016/j.cca.2011.10.014.
APA：
Cheng, Zhi,Lib, Lin,Li, Zhongzhi,Liu, Mugen,Yan, Jinting...&Ma, Xu.(2012).Two novel HAND1 mutations in Chinese patients with ventricular septal defect.CLINICA CHIMICA ACTA,413,(7-8)
MLA：
Cheng, Zhi,et al."Two novel HAND1 mutations in Chinese patients with ventricular septal defect".CLINICA CHIMICA ACTA 413..7-8(2012):675-677
