Whole exome sequencing identifies novel mutation in eight Chinese children with isolated tetralogy of Fallot.
Whole exome sequencing identifies novel mutation in eight Chinese children with isolated tetralogy of Fallot.
复制标题
全外显子组测序在八名患有孤立性法洛四联症的中国儿童中发现了新的突变
DOI：
10.18632/oncotarget.22202
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发表时间：
2017-12-05
期刊：
影响因子：
--
通讯作者：
Wang CZ
中科院分区：
文献类型：
--
作者：
Liu L;Wang HD;Cui CY;Qin YY;Fan TB;Peng BT;Zhang LZ;Wang CZ
背景法乐四联症是最常见的发绀型先天性心脏病。但其发病机制尚不清楚。本研究的目的是通过全外显子组测序鉴定法洛四联症的遗传变异。方法对8个法洛四联症小家系进行全外显子测序。通过家系内和家系间比对发现差异单核苷酸多态性和小InDel，然后通过桑格测序进行验证。通过使用Gene Ontology /pathway、Online Mendelian Inheritance in Man、PubMed和其他数据库的分析确定Fallot四联症相关基因。结果共发现16个差异单核苷酸多态性位点和8个差异小InDels。16个差异单核苷酸多态位点分别位于Chr 1、2、4、5、11、12、15、22和X染色体上。在16个单核苷酸多态性位点中，有6个尚未报道。8个差异小InDels分别位于Chr 2、4、9、12、17、19和X上，而在8个差异小InDels中，有2个尚未报道。使用基因本体/途径、在线孟德尔遗传学、PubMed和其他数据库的分析显示，PEX 5、NACA、ATXN 2、CELA 1、PCDHB 4和CTBP 1与法洛四联症相关。结论PEX 5、NACA、ATXN 2、CELA 1、PCDHB 4和CTBP 1基因突变是孤立性法洛四联症的潜在遗传病因。
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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影响因子：
64.8
作者：
通讯作者：
--
影响因子：
2.6
作者：
Sharma, HS;Peters, THE;Bogers, AJJC
通讯作者：
Bogers, AJJC
使用下一代 DNA 测序数据进行变异发现和基因分型的框架。
影响因子：
30.8
作者：
通讯作者：
--
影响因子：
24
作者：
Beauchesne, LM;Warnes, CA;Michels, VV
通讯作者：
Michels, VV
DOI：
10.1002/ajmg.a.37296
发表时间：
2015-12
期刊：
American journal of medical genetics. Part A
影响因子：
--
作者：
Amarillo IE;O'Connor S;Lee CK;Willing M;Wambach JA
通讯作者：
Wambach JA