Discovery of the Molecular Pathogenesis of Tetralogy of Fallot Based on Personal Genomics

2015 Fiscal Year Final Research Report

• Project/Area Number: 26860784
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: The University of Tokyo
• Principal Investigator: Inuzuka Ryo 東京大学, 医学部附属病院, 講師 (00597560)
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: 円錐動脈幹異常 / エクソーム解析 / 機能解析

Outline of Final Research Achievements

We performed whole exome analyses of 53 isolated cases with conotruncal anolies (including 3 cases with patent trucus arteriosus, 31 with tetralogy of Fallot and 21 cases with transposition of great arteries) and two families with tetralogy of Fallot. Exome analysis of the first family revealed JAG1 mutaion which has been reported to be related to Alagille syndrome. Asyptomatic mother of the proband had the same mutation, suggesting the low penetrance of the mutation. Six candidate genes were found from the analysis of the second family. We are now perfoming functional analysis using zebrafish for the one of the candidate genes, LZTR1, which is located at 22q11.2 lesion know to be related to pathogenesis of tetralogy of Fallot.

Free Research Field

先天性心疾患