IHB OpenIR  > 水生生物分子与细胞生物学研究中心  > 期刊论文
Identification of LBX2 as a novel causal gene of atrial septal defect
Wang, Jing1; Luo, Jing2; Chenc, Qiuhong3; Wang, Xi4; He, Jiangyan5; Zhang, Wei4; Yin, Zhan5; Zheng, Fang2; Pan, Hong4; Li, Tengyan4; Lou, Qiyong5; Wang, Binbin4
2018-08-15
Source PublicationINTERNATIONAL JOURNAL OF CARDIOLOGY
ISSN0167-5273
Volume265Issue:1Pages:188-194
Abstract

Background: Atrial septal defect (ASD) is one of the most common cardiac malformations worldwide. Several genes have been identified so far, which can merely explain small proportion of all the cases, therefore, it is anticipated that there are additional genes causing ASD. The aims of this study were to identify the causal gene of ostium secundum atrial septal defect (ASDII) in a Chinese family. Methods: Whole exome sequencing was performed in three affected members and one control in the ASDII family. We screened mutations of LBX2 in 300 unrelated ASD patients and validated in 400 normal controls by Sanger sequencing. LBX2 knockout zebrafish was generated by CRISPR/Cas9 to detect whether lbx2 deficiency influenced cardiac development. Results: A rare missense mutation in LBX2 (c.A403G:p.K135E) was identified as the pathogenic cause of ASD. Subsequent mutation screening revealed two missense variants in 3 of 300 sporadic patients. We observed expanded size of atrium and ventricle in LBX2 knockout zebrafish through hematoxylin-eosin staining, more incompact distribution of cardiac myocytes was also discovered in homozygote compared with in wildtype. Furthermore, we performed in situ hybridization of crip2 gene to trace the cardiac neural crest cells in the embryo stage and found that the migration of neural crest cells was obviously delayed in the homozygotes. Conclusions: We identified LBX2 for the first time as a pathogenic gene of ASDII. LBX2 deficiency may cause abnormal development of heart through influencing the migration of neural crest cells and affect the process of cardiac septation. (c) 2018 Elsevier B.V. All rights reserved.

KeywordAtrial septal defect LBX2 Neural crest cells Whole exome sequencing
DOI10.1016/j.ijcard.2018.04.038
Funding OrganizationNational Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs)
Indexed BySCI
Language英语
Funding ProjectNational Natural Science Foundation of China[81400243] ; National Natural Science Foundation of China[81300131] ; Hi-Tech Research and Development Program of China (863 Programs)[2012AA022402]
WOS Research AreaCardiovascular System & Cardiology
WOS SubjectCardiac & Cardiovascular Systems
WOS IDWOS:000434679400040
WOS KeywordCONGENITAL HEART-DISEASE ; CARDIAC NEURAL CREST ; UROGENITAL SYSTEM ; RISK-FACTORS ; MUTATIONS ; CELLS ; ZEBRAFISH ; MIGRATION ; PAX3 ; ASSOCIATION
PublisherELSEVIER IRELAND LTD
Funding OrganizationNational Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; National Natural Science Foundation of China ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs) ; Hi-Tech Research and Development Program of China (863 Programs)
Citation statistics
Document Type期刊论文
Identifierhttp://ir.ihb.ac.cn/handle/342005/30379
Collection水生生物分子与细胞生物学研究中心_期刊论文
Corresponding AuthorLou, Qiyong; Wang, Binbin
Affiliation1.Capital Med Univ, Sch Basic Med Sci, Dept Med Genet & Dev Biol, Beijing 100069, Peoples R China
2.Wuhan Univ, Zhongnan Hosp, Ctr Gene Diag, Wuhan 430071, Hubei, Peoples R China
3.Qinghai High Altitude Med Res Inst, Cardiovasc Ctr, Xining 810012, Peoples R China
4.Natl Res Inst Family Planning, Ctr Genet, Beijing 100081, Peoples R China
5.Chinese Acad Sci, Inst Hydrobiol, Key Lab Aquat Biodivers & Conservat, Wuhan 430072, Hubei, Peoples R China
Recommended Citation
GB/T 7714
Wang, Jing,Luo, Jing,Chenc, Qiuhong,et al. Identification of LBX2 as a novel causal gene of atrial septal defect[J]. INTERNATIONAL JOURNAL OF CARDIOLOGY,2018,265(1):188-194.
APA Wang, Jing.,Luo, Jing.,Chenc, Qiuhong.,Wang, Xi.,He, Jiangyan.,...&Wang, Binbin.(2018).Identification of LBX2 as a novel causal gene of atrial septal defect.INTERNATIONAL JOURNAL OF CARDIOLOGY,265(1),188-194.
MLA Wang, Jing,et al."Identification of LBX2 as a novel causal gene of atrial septal defect".INTERNATIONAL JOURNAL OF CARDIOLOGY 265.1(2018):188-194.
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