ArticleEuropean journal of human genetics : EJHG2014
Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.The Journal of clinical investigation · 2021Trial
- [A large family of Nascimento form of syndromic X-linked intellectual developmental disorder caused by large segment deletion of theZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- A novel partial de novo duplication of JARID2 gene causing a neurodevelopmental phenotype.Molecular genetics & genomic medicine · 2022Article
- A novel UBE2A splice site variant causing intellectual disability type Nascimento.Clinical case reports · 2022Article
- JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Exon-focused targeted oligonucleotide microarray design increases detection of clinically relevant variants across multiple NHS genomic centres.NPJ genomic medicine · 2020Article
- Genes with human-specific features are primarily involved with brain, immune and metabolic evolution.BMC bioinformatics · 2019Article
- Genotype Variations of rs13381800 in TCF4 Gene and rs17039988 in NRXN1 Gene among a Sample of Iranian Patients with Schizophrenia.Iranian journal of psychiatry · 2019Article
- A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8.Journal of human genetics · 2019Article
- Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.Molecular genetics & genomic medicine · 2019Article
- Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability.Nature chemical biology · 2019Article
- Article
- Identification of novel candidate disease genes from de novo exonic copy number variants.Genome medicine · 2017Article
- Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.BMC genomics · 2017Article
- Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.Journal of pediatric genetics · 2017Review
- A novelHuman genome variation · 2017Article
- A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's disease.Neurogenetics · 2016Article
- CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens.Scientific reports · 2016Article
- Neurexin 1 (NRXN1) splice isoform expression during human neocortical development and aging.Molecular psychiatry · 2016Article
- Chromodomain helicase DNA-binding proteins in stem cells and human developmental diseases.Stem cells and development · 2015Review
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Authors and funding
14 authors.
Funding
Abstract
Intellectual disability affects about 3% of individuals globally, with∼50% idiopathic. We designed an exonic-resolution array targeting all known submicroscopic chromosomal intellectual disability syndrome loci, causative genes for intellectual disability, and potential candidate genes, all genes encoding glutamate receptors and epigenetic regulators. Using this platform, we performed chromosomal microarray analysis on 165 intellectual disability trios (affected child and both normal parents). We identified and independently validated 36 de novo copy-number changes in 32 trios. In all, 67% of the validated events were intragenic, involving only exon 1 (which includes the promoter sequence according to our design), exon 1 and adjacent exons, or one or more exons excluding exon 1. Seventeen of the 36 copy-number variants involve genes known to cause intellectual disability. Eleven of these, including seven intragenic variants, are clearly pathogenic (involving STXBP1, SHANK3 (3 patients), IL1RAPL1, UBE2A, NRXN1, MEF2C, CHD7, 15q24 and 9p24 microdeletion), two are likely pathogenic (PI4KA, DCX), two are unlikely to be pathogenic (GRIK2, FREM2), and two are unclear (ARID1B, 15q22 microdeletion). Twelve individuals with genomic imbalances identified by our array were tested with a clinical microarray, and six had a normal result. We identified de novo copy-number variants within genes not previously implicated in intellectual disability and uncovered pathogenic variation of known intellectual disability genes below the detection limit of standard clinical diagnostic chromosomal microarray analysis.
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