ArticleEuropean journal of human genetics : EJHG2013
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 69 citations in OpenAlex.
- Toward Comprehensive Clinical Genomics: Integrating Exon-Level Analysis for Detecting Monogenic Copy Number Variations.Annals of laboratory medicine · 2026Article
- Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.American journal of medical genetics. Part A · 2025Article
- Auts2 enhances neurogenesis and promotes expansion of the cerebral cortex.Journal of advanced research · 2025Article
- Parent-of-origin regulation by maternal auts2 shapes neurodevelopment and behavior in fish.Genome biology · 2025Article
- De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Mechanisms of glutamate receptors hypofunction dependent synaptic transmission impairment in the hippocampus of schizophrenia susceptibility gene Opcml-deficient mouse model.Molecular brain · 2024Article
- Article
- Keeping the balance: Trade-offs between human brain evolution, autism, and schizophrenia.Frontiers in genetics · 2022Review
- New Era of Mapping and Understanding Common Fragile Sites: An Updated Review on Origin of Chromosome Fragility.Frontiers in genetics · 2022Review
- Autism-Related Transcription Factors Underlying the Sex-Specific Effects of Prenatal Bisphenol A Exposure on Transcriptome-Interactome Profiles in the Offspring Prefrontal Cortex.International journal of molecular sciences · 2021Article
- Review
- Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review.BMC psychiatry · 2021Review
- The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective.Cellular and molecular life sciences : CMLS · 2021Review
- Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants inFrontiers in cell and developmental biology · 2021Review
- A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 ofClinical case reports · 2019Article
- Toward the Language Oscillogenome.Frontiers in psychology · 2018Article
- Identification of novel candidate disease genes from de novo exonic copy number variants.Genome medicine · 2017Article
- Histone H2A Monoubiquitination in Neurodevelopmental Disorders.Trends in genetics : TIG · 2017Review
- Fragile sites in cancer: more than meets the eye.Nature reviews. Cancer · 2017Review
- Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.Scientific reports · 2017Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
Abstract
Small genomic rearrangements and copy-number variations (CNVs) involving a single gene have been associated recently with many neurocognitive phenotypes, including intellectual disability (ID), behavioral abnormalities, and autistic spectrum disorders (ASDs). Such small CNVs in the Autism susceptibility candidate 2 (AUTS2) gene have been shown to be associated with seizures, ID, and ASDs. We report four patients with small CNVs ranging in size between 133-319 kb that disrupt AUTS2. Two patients have duplications involving single exons, whereas two have deletions that removed multiple exons. All patients had developmental delay, whereas two patients had a diagnosis of ASDs. The CNVs were detected by an exon-targeted array CGH with dense oligonucleotide coverage in exons of genes known or hypothesized to be causative of multiple human phenotypes. Our report further shows that disruption of AUTS2 results in a variety of neurobehavioral phenotypes. More importantly, it demonstrates the utility of targeted exon array as a highly sensitive clinical diagnostic tool for the detection of small genomic rearrangements in the clinically relevant regions of the human genome.
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