Whole exome sequencing identifies novel mutation in eight Chinese children with isolated tetralogy of Fallot
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Lin Liu1,*, Hong-Dan Wang2,*, Cun-Ying Cui1, Yun-Yun Qin1, Tai-Bing Fan3, Bang-Tian Peng3, Lian-Zhong Zhang1 and Cheng-Zeng Wang4
1Department of Cardiovascular Ultrasound, Henan Provincial People’s Hospital, Zhengzhou University People’s Hospital, Zhengzhou 450003, China
2Institute of Medical Genetics, Henan Provincial People’s Hospital, Zhengzhou University People’s Hospital, Zhengzhou 450003, China
3Children’s Heart Center, Henan Provincial People’s Hospital, Zhengzhou University People’s Hospital, Zhengzhou 450003, China
4Department of Ultrasound, The Affiliated Cancer Hospital, Zhengzhou University, Zhengzhou 450008, China
*These authors have contributed equally to this work
Lin Liu, email: [email protected]
Keywords: tetralogy of Fallot; congenital heart disease; whole exome sequencing
Received: April 05, 2017 Accepted: September 05, 2017 Published: October 31, 2017
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.
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