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Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability (DD/ID).

作者信息

Chen Yuxia, Tang Xiang, Liu Ling, Huang Qinrong, Lin Li, Liu Guoqing, Xiao Nong

机构信息

Department of Children Rehabilitation, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, National Clinical Research Center for Child Health and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Children's Hospital of Chongqing Medical University, Chongqing Key Laboratory of Translational Medical Research in Cognitive Development and Learning and Memory Disorders, Chongqing 400014, PR China.

出版信息

Genes Dis. 2021 Dec 3;9(5):1166-1169. doi: 10.1016/j.gendis.2021.11.008. eCollection 2022 Sep.

DOI:10.1016/j.gendis.2021.11.008
PMID:35873028
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9293695/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2c9/9293695/491c64309eb3/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2c9/9293695/491c64309eb3/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2c9/9293695/491c64309eb3/gr1.jpg

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Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability (DD/ID).全面的基因组测序分析确定了与婴儿发育迟缓或智力残疾（DD/ID）相关的新基因突变和拷贝数变异。
Genes Dis. 2021 Dec 3;9(5):1166-1169. doi: 10.1016/j.gendis.2021.11.008. eCollection 2022 Sep.
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[Application of single nucleotide polymorphism-microarray and target gene sequencing in the study of genetic etiology of children with unexplained intellectual disability or developmental delay].单核苷酸多态性微阵列与靶基因测序在不明原因智力残疾或发育迟缓儿童遗传病因学研究中的应用
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Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions.发育迟缓与智力残疾合并症的染色体微阵列分析
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Chromosomal Aberrations in Pediatric Patients with Developmental Delay/Intellectual Disability: A Single-Center Clinical Investigation.染色体异常与发育迟缓/智力障碍儿科患者：单中心临床研究。
Biomed Res Int. 2019 Nov 6;2019:9352581. doi: 10.1155/2019/9352581. eCollection 2019.
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Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.对于具有意义不确定的新发拷贝数变异的智力障碍/发育障碍（ID/DD）病例，全外显子组测序是明确诊断所必需的：两个概念验证实例。
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Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.在一组孤立性和综合征性发育迟缓/智力障碍的队列中进行拷贝数变异分析，揭示了新的基因组疾病、位置效应和候选疾病基因。
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Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.证实染色体微阵列分析可作为发育迟缓、智力障碍、自闭症谱系障碍和发育异常特征的个体的一线临床诊断测试。
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引用本文的文献

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Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing.使用全外显子组测序对225名发育迟缓及/或智力残疾中国儿童进行遗传和表型分析。
BMC Genomics. 2024 Apr 22;25(1):391. doi: 10.1186/s12864-024-10279-1.

本文引用的文献

1
Chromosomal Aberrations in Pediatric Patients with Developmental Delay/Intellectual Disability: A Single-Center Clinical Investigation.染色体异常与发育迟缓/智力障碍儿科患者：单中心临床研究。
Biomed Res Int. 2019 Nov 6;2019:9352581. doi: 10.1155/2019/9352581. eCollection 2019.
2
[Expert consensus on the application of low-depth whole genome sequencing in prenatal diagnosis].《低深度全基因组测序在产前诊断中应用的专家共识》
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Apr 10;36(4):293-296. doi: 10.3760/cma.j.issn.1003-9406.2019.04.001.
3
Loss-of-function variants in HIVEP2 are a cause of intellectual disability.
HIVEP2基因功能丧失性变异是智力残疾的一个病因。
Eur J Hum Genet. 2016 Apr;24(4):556-61. doi: 10.1038/ejhg.2015.151. Epub 2015 Jul 8.
4
The contribution of de novo coding mutations to autism spectrum disorder.新生编码突变对自闭症谱系障碍的影响。
Nature. 2014 Nov 13;515(7526):216-21. doi: 10.1038/nature13908. Epub 2014 Oct 29.
5
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.共识声明：对于患有发育障碍或先天畸形的个体，染色体微阵列是一线临床诊断测试。
Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006.