Whole exome sequencing identifies novel mutation in eight Chinese children with isolated tetralogy of Fallot

被引:8
作者
Liu, Lin [1 ]
Wang, Hong-Dan [2 ]
Cui, Cun-Ying [1 ]
Qin, Yun-Yun [1 ]
Fan, Tai-Bing [3 ]
Peng, Bang-Tian [3 ]
Zhang, Lian-Zhong [1 ]
Wang, Cheng-Zeng [4 ]
机构
[1] Zhengzhou Univ, Peoples Hosp, Henan Prov Peoples Hosp, Dept Cardiovasc Ultrasound, Zhengzhou 450003, Henan, Peoples R China
[2] Zhengzhou Univ, Peoples Hosp, Henan Prov Peoples Hosp, Inst Med Genet, Zhengzhou 450003, Henan, Peoples R China
[3] Zhengzhou Univ, Peoples Hosp, Henan Prov Peoples Hosp, Childrens Heart Ctr, Zhengzhou 450003, Henan, Peoples R China
[4] Zhengzhou Univ, Affiliated Canc Hosp, Dept Ultrasound, Zhengzhou 450008, Henan, Peoples R China
来源
ONCOTARGET | 2017年 / 8卷 / 63期
基金
中国国家自然科学基金;
关键词
tetralogy of Fallot; congenital heart disease; whole exome sequencing; CONGENITAL HEART-DISEASE; DNA MICROARRAY; NEURAL CREST; ANOMALIES; DISCOVERY; GENES;
D O I
10.18632/oncotarget.22202
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Background: Tetralogy of Fallot is the most common cyanotic congenital heart disease. However, its pathogenesis remains to be clarified. The purpose of this study was to identify the genetic variants in Tetralogy of Fallot by whole exome sequencing. Methods: Whole exome sequencing was performed among eight small families with Tetralogy of Fallot. Differential single nucleotide polymorphisms and small InDels were found by alignment within families and between families and then were verified by Sanger sequencing. Tetralogy of Fallot-related genes were determined by analysis using Gene Ontology /pathway, Online Mendelian Inheritance in Man, PubMed and other databases. Results: A total of sixteen differential single nucleotide polymorphisms loci and eight differential small InDels were discovered. The sixteen differential single nucleotide polymorphisms loci were located on Chr 1, 2, 4, 5, 11, 12, 15, 22 and X. Among the sixteen single nucleotide polymorphisms loci, six has not been reported. The eight differential small InDels were located on Chr 2, 4, 9, 12, 17, 19 and X, whereas of the eight differential small InDels, two has not been reported. Analysis using Gene Ontology /pathway, Online Mendelian Inheritance in Man, PubMed and other databases revealed that PEX5, NACA, ATXN2, CELA1, PCDHB4 and CTBP1 were associated with Tetralogy of Fallot. Conclusions: Our findings identify PEX5, NACA, ATXN2, CELA1, PCDHB4 and CTBP1 mutations as underlying genetic causes of isolated tetralogy of Fallot.
引用
收藏
页码:106976 / 106988
页数:13
相关论文
共 22 条
[1]   Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families [J].
Alazami, Anas M. ;
Patel, Nisha ;
Shamseldin, Hanan E. ;
Anazi, Shamsa ;
Al-Dosari, Mohammed S. ;
Alzahrani, Fatema ;
Hijazi, Hadia ;
Alshammari, Muneera ;
Aldahmesh, Mohammed A. ;
Salih, Mustafa A. ;
Faqeih, Eissa ;
Alhashem, Amal ;
Bashiri, Fahad A. ;
Al-Owain, Mohammed ;
Kentab, Amal Y. ;
Sogaty, Sameera ;
Al Tala, Saeed ;
Temsah, Mohamad-Hani ;
Tulbah, Maha ;
Aljelaify, Rasha F. ;
Alshahwan, Saad A. ;
Seidahmed, Mohammed Zain ;
Alhadid, Adnan A. ;
Aldhalaan, Hesham ;
AlQallaf, Fatema ;
Kurdi, Wesam ;
Alfadhel, Majid ;
Babay, Zainab ;
Alsogheer, Mohammad ;
Kaya, Namik ;
Al-Hassnan, Zuhair N. ;
Abdel-Salam, Ghada M. H. ;
Al-Sannaa, Nouriya ;
Al Mutairi, Fuad ;
El Khashab, Heba Y. ;
Bohlega, Saeed ;
Jia, Xiaofei ;
Nguyen, Henry C. ;
Hammami, Rakad ;
Adly, Nouran ;
Mohamed, Jawahir Y. ;
Abdulwahab, Firdous ;
Ibrahim, Niema ;
Naim, Ewa A. ;
Al-Younes, Banan ;
Meyer, Brian F. ;
Hashem, Mais ;
Shaheen, Ranad ;
Xiong, Yong ;
Abouelhoda, Mohamed .
CELL REPORTS, 2015, 10 (02) :148-161
[2]   De Novo 9q Gain in an Infant with Tetralogy of Fallot with Absent Pulmonary Valve: Patient Report and Review of Congenital Heart Disease in 9q Duplication Syndrome [J].
Amarillo, Ina E. ;
O'Connor, Shawn ;
Lee, Caroline K. ;
Willing, Marcia ;
Wambach, Jennifer A. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (12) :2966-2974
[3]   Jagged1 (JAG1) Mutations in Patients with Tetralogy of Fallot or Pulmonic Stenosis [J].
Bauer, Robert C. ;
Laney, Ayanna O. ;
Smith, Rosemarie ;
Geffen, Jennifer ;
Morrissette, Jennifer J. D. ;
Woyciechowski, Stacy ;
Garbarini, Jennifer ;
Loomes, Kathleen M. ;
Krantz, Ian D. ;
Urban, Zsolt ;
Gelb, Bruce D. ;
Goldmuntz, Elizabeth ;
Spinner, Nancy B. .
HUMAN MUTATION, 2010, 31 (05) :594-601
[4]   Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with selected conotruncal anomalies [J].
Beauchesne, LM ;
Warnes, CA ;
Connolly, HM ;
Ammash, NM ;
Grogan, M ;
Jalal, SM ;
Michels, VV .
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2005, 45 (04) :595-598
[5]   Structural Abnormalities of the Pulmonary Trunk in Tetralogy of Fallot and Potential Clinical Implications A Morphological Study [J].
Bedard, Elisabeth ;
McCarthy, Karen P. ;
Dimopoulos, Konstantinos ;
Giannakoulas, Georgios ;
Gatzoulis, Michael A. ;
Ho, Siew Yen .
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2009, 54 (20) :1883-1890
[6]   Gene expression in cardiac tissues from infants with idiopathic conotruncal defects [J].
Bittel, Douglas C. ;
Butler, Merlin G. ;
Kibiryeva, Nataliya ;
Marshall, Jennifer A. ;
Chen, Jie ;
Lofland, Gary K. ;
O'Brien, James E., Jr. .
BMC MEDICAL GENOMICS, 2011, 4
[7]  
Brown CB, 2001, DEVELOPMENT, V128, P3071
[8]   Unnatural History of Tetralogy of Fallot Prospective Follow-Up of 40 Years After Surgical Correction [J].
Cuypers, Judith A. A. E. ;
Menting, Myrthe E. ;
Konings, Elisabeth E. M. ;
Opic, Petra ;
Utens, Elisabeth M. W. J. ;
Helbing, Willem A. ;
Witsenburg, Maarten ;
van den Bosch, Annemien E. ;
Ouhlous, Mohamed ;
van Domburg, Ron T. ;
Rizopoulos, Dimitris ;
Meijboom, Folkert J. ;
Boersma, Eric ;
Bogers, Ad J. J. C. ;
Roos-Hesselink, Jolien W. .
CIRCULATION, 2014, 130 (22) :1944-1953
[9]   A framework for variation discovery and genotyping using next-generation DNA sequencing data [J].
DePristo, Mark A. ;
Banks, Eric ;
Poplin, Ryan ;
Garimella, Kiran V. ;
Maguire, Jared R. ;
Hartl, Christopher ;
Philippakis, Anthony A. ;
del Angel, Guillermo ;
Rivas, Manuel A. ;
Hanna, Matt ;
McKenna, Aaron ;
Fennell, Tim J. ;
Kernytsky, Andrew M. ;
Sivachenko, Andrey Y. ;
Cibulskis, Kristian ;
Gabriel, Stacey B. ;
Altshuler, David ;
Daly, Mark J. .
NATURE GENETICS, 2011, 43 (05) :491-+
[10]   Familial Tetralogy of Fallot caused by mutation in the jagged1 gene [J].
Eldadah, ZA ;
Hamosh, A ;
Biery, NJ ;
Montgomery, RA ;
Duke, M ;
Elkins, R ;
Dietz, HC .
HUMAN MOLECULAR GENETICS, 2001, 10 (02) :163-169