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Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.对先天性心脏病患者进行染色体微阵列检测可揭示新的致病基因座并具有较高的诊断率。
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2
A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea.一名4个月大女童的1号染色体1q44缺失；韩国首例报告。
Korean J Pediatr. 2014 Jun;57(6):292-6. doi: 10.3345/kjp.2014.57.6.292. Epub 2014 Jun 30.
3
A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder.CTNNA3 复合杂合缺失提示 αT-连环蛋白在自闭症谱系障碍易感性中的作用。
J Neurodev Disord. 2014;6(1):17. doi: 10.1186/1866-1955-6-17. Epub 2014 Jul 10.
4
Array CGH as a first-tier test for neonates with congenital heart disease.将比较基因组杂交技术作为先天性心脏病新生儿的一线检测方法。
Cardiol Young. 2015 Jan;25(1):115-22. doi: 10.1017/S1047951113001868. Epub 2013 Nov 6.
5
Array comparative genomic hybridization as a clinical diagnostic tool in syndromic and nonsyndromic congenital heart disease.Array 比较基因组杂交作为综合征型和非综合征型先天性心脏病的临床诊断工具。
Pediatr Res. 2013 Jun;73(6):772-6. doi: 10.1038/pr.2013.41. Epub 2013 Mar 12.
6
Assessment of the role of copy-number variants in 150 patients with congenital heart defects.150例先天性心脏病患者中拷贝数变异作用的评估。
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7
Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy.αT-连环蛋白复合区蛋白突变与致心律失常性右室心肌病相关。
Eur Heart J. 2013 Jan;34(3):201-10. doi: 10.1093/eurheartj/ehs373. Epub 2012 Nov 7.
8
Stromal interaction molecule 1 (STIM1) is involved in the regulation of mitochondrial shape and bioenergetics and plays a role in oxidative stress.基质相互作用分子 1（STIM1）参与调节线粒体的形态和生物能量学，并在氧化应激中发挥作用。
J Biol Chem. 2012 Dec 7;287(50):42042-52. doi: 10.1074/jbc.M112.417212. Epub 2012 Oct 17.
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Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.TGF-β 抑制剂 SKI 突变导致伴有主动脉瘤的 Shprintzen-Goldberg 综合征。
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Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.全球罕见拷贝数变异对散发性先天性心脏病风险的贡献。
Am J Hum Genet. 2012 Sep 7;91(3):489-501. doi: 10.1016/j.ajhg.2012.08.003. Epub 2012 Aug 30.

先天性心脏病患儿调查中的染色体微阵列分析

Chromosome microarray analysis in the investigation of children with congenital heart disease.

作者信息

Wu Xiao-Li, Li Ru, Fu Fang, Pan Min, Han Jin, Yang Xin, Zhang Yong-Ling, Li Fa-Tao, Liao Can

机构信息

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, No. 9 Jinsui Road, Guangdong, China.

出版信息

BMC Pediatr. 2017 May 4;17(1):117. doi: 10.1186/s12887-017-0863-3.

DOI:10.1186/s12887-017-0863-3
PMID:28472932
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5418813/
Abstract

BACKGROUND

Our study was aimed to explore the clinical implication of chromosome microarray analysis (CMA) in genetically etiological diagnosis of children with congenital heart disease (CHD).

METHODS

A total of 104 children with CHD with or without multiple congenital anomalies (MCA) or intellectual disabilities/developmental delay (ID/DD) but normal karyotype were investigated using Affymetrix CytoScan HD array.

RESULT

Pathogenic copy number variations (PCNVs) were identified in 29 children (27.9%). The detection rates in children with simple CHD and complex CHD were 31.1% (19/61) and 23.2% (10/43), respectively. The detection rates of PCNVs were 17.9% (7/39), 20% (5/25), 63.2% (12/19) and 23.8% (5/21) in isolated CHD, CHD plus MCA, CHD plus ID/DD, CHD plus MCA and ID/DD, respectively. The PCNVs rate of CHD plus ID/DD was significantly higher than that of isolated CHD. Two genomic loci including 15q11.2 deletion and 1q43-q44 deletion were considered as CHD locus. The DVL1, SKI, STIM1, CTNNA3 and PLN were identified as candidate genes associated with CHD phenotypes.

CONCLUSION

CMA can increase the diagnostic rate and improve the etiological diagnosis in children with CHD. We suggest CMA as a first-tier test in children with CHD, especially in children with CHD plus ID/DD.

摘要

背景

我们的研究旨在探讨染色体微阵列分析（CMA）在先天性心脏病（CHD）患儿遗传病因诊断中的临床意义。

方法

共对104例患有或未患有多重先天性异常（MCA）或智力残疾/发育迟缓（ID/DD）但核型正常的CHD患儿使用Affymetrix CytoScan HD阵列进行研究。

结果

在29例患儿（27.9%）中鉴定出致病性拷贝数变异（PCNVs）。单纯CHD患儿和复杂CHD患儿的检出率分别为31.1%（19/61）和23.2%（10/43）。孤立性CHD、CHD合并MCA、CHD合并ID/DD、CHD合并MCA和ID/DD中PCNVs的检出率分别为17.9%（7/39）、20%（5/25）、63.2%（12/19）和23.8%（5/21）。CHD合并ID/DD的PCNVs率显著高于孤立性CHD。两个基因组位点包括15q11.2缺失和1q43 - q44缺失被认为是CHD位点。DVL1、SKI、STIM1、CTNNA3和PLN被鉴定为与CHD表型相关的候选基因。

结论

CMA可提高CHD患儿的诊断率并改善病因诊断。我们建议将CMA作为CHD患儿的一线检测方法，尤其是在CHD合并ID/DD的患儿中。