Mei Mei, Yang Lin, Zhan Guodong, Wang Huijun, Ma Duan, Zhou Wenhao, Huang Guoying
Children's Hospital of Fudan University, Shanghai 201102, China.
Children's Hospital of Fudan University, Shanghai 201102, China. Email:
Zhonghua Er Ke Za Zhi. 2014 Jun;52(6):460-3.
To screen for genomic copy number variations (CNVs) in two unrelated neonates with multiple congenital abnormalities using Affymetrix SNP chip and try to find the critical region associated with congenital heart disease.
Two neonates were tested for genomic copy number variations by using Cytogenetic SNP chip.Rare CNVs with potential clinical significance were selected of which deletion segments' size was larger than 50 kb and duplication segments' size was larger than 150 kb based on the analysis of ChAs software, without false positive CNVs and segments of normal population. The identified CNVs were compared with those of the cases in DECIPHER and ISCA databases.
Eleven rare CNVs with size from 546.6-27 892 kb were identified in the 2 neonates. The deletion region and size of case 1 were 8p23.3-p23.1 (387 912-11 506 771 bp) and 11.1 Mb respectively, the duplication region and size of case 1 were 8p23.1-p11.1 (11 508 387-43 321 279 bp) and 31.8 Mb respectively. The deletion region and size of case 2 were 8p23.3-p23.1 (46 385-7 809 878 bp) and 7.8 Mb respectively, the duplication region and size of case 2 were 8p23.1-p11.21 (12 260 914-40 917 092 bp) and 28.7 Mb respectively. The comparison with Decipher and ISCA databases supported previous viewpoint that 8p23.1 had been associated with congenital heart disease and the region between 7 809 878-11 506 771 bp may play a role in the severe cardiac defects associated with 8p23.1 deletions. Case 1 had serious cardiac abnormalities whose GATA4 was located in the duplication segment and the copy number increased while SOX7 was located in the deletion segment and the copy number decreased.
The region between 7 809 878-11 506 771 bp in 8p23.1 is associated with heart defects and copy number variants of SOX7 and GATA4 may result in congenital heart disease.
使用Affymetrix SNP芯片筛查两名患有多种先天性异常的无关新生儿的基因组拷贝数变异（CNV），并试图找到与先天性心脏病相关的关键区域。
使用细胞遗传学SNP芯片对两名新生儿进行基因组拷贝数变异检测。基于ChAs软件分析，选择具有潜在临床意义的罕见CNV，其中缺失片段大小大于50 kb，重复片段大小大于150 kb，且无正常人群的假阳性CNV和片段。将鉴定出的CNV与DECIPHER和ISCA数据库中的病例进行比较。
在这两名新生儿中鉴定出11个大小为546.6 - 27892 kb的罕见CNV。病例1的缺失区域和大小分别为8p23.3 - p23.1（387912 - 11506771 bp）和11. Mb，病例1的重复区域和大小分别为8p23.1 - p11.1（11508387 - 43321279 bp）和31.8 Mb。病例2的缺失区域和大小分别为8p23.3 - p23.1（46385 - 7809878 bp）和7.8 Mb，病例2的重复区域和大小分别为8p23.1 - p11.21（12260914 - 40917092 bp）和28.7 Mb。与Decipher和ISCA数据库的比较支持了先前的观点，即8p23.1与先天性心脏病有关，7809878 - 11506771 bp之间的区域可能在与8p23.1缺失相关的严重心脏缺陷中起作用。病例1有严重的心脏异常，其GATA4位于重复片段中且拷贝数增加，而SOX7位于缺失片段中且拷贝数减少。
8p23.1中7809878 -
11506771 bp之间的区域与心脏缺陷有关，SOX7和GATA4的拷贝数变异可能导致先天性心脏病。
