ArticleAmerican journal of human genetics2013
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 177 papers, 1 of them a synthesis that pooled it.
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Who cites it
177 citing papers in PubMed, 1 synthesis or guideline pooled it, 296 citations in OpenAlex.
- Genetic associations between voltage-gated calcium channels and autism spectrum disorder: a systematic review.Molecular brain · 2020Pooled it
- Increased Prevalence of Rare Copy Number Variants in Australian Children With Fetal Alcohol Spectrum Disorder: Experience in a State-Wide Diagnostic Service.Alcohol, clinical & experimental research · 2026Article
- Asymmetric attrition and secondary chromosome destabilization after double-strand breaks in human embryonic development.Nature communications · 2026Article
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- A tandem repeat atlas for the genome of inbred mouse strains: A genetic variation resource.iScience · 2025Article
- Brain-Derived Neurotrophic Factor Trafficking via the Regulated Secretory Pathway: Mechanisms and Disease Implications.Molecular neurobiology · 2025Review
- Generation and characterization of a knockout mouse of an enhancer of EBF3.Biology open · 2025Article
- Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant.Nucleic acids research · 2025Article
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- A Tandem Repeat Atlas for the Genome of Inbred Mouse Strains: A Genetic Variation Resource.bioRxiv : the preprint server for biology · 2025Article
- Behavioral Abnormalities, Cognitive Impairments, Synaptic Deficits, and Gene Replacement Therapy in a CRISPR Engineered Rat Model of 5p15.2 Deletion Associated With Cri du Chat Syndrome.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Analysis of exonic deletions in a large population study provides novel insights into NRXN1 pathology.NPJ genomic medicine · 2024Article
- Expanded phenotypic spectrum in MODY 5 patients with 17q12 deletion syndrome: experience from an Indian tertiary care hospital.Journal of pediatric endocrinology & metabolism : JPEM · 2024Article
- Copy number variations in autistic children.Biomedical reports · 2024Article
- The Importance of Large-Scale Genomic Studies to Unravel Genetic Risk Factors for Autism.International journal of molecular sciences · 2024Review
- Landscape ofJournal of clinical medicine · 2024Review
- Article
- DNA replication in early mammalian embryos is patterned, predisposing lamina-associated regions to fragility.bioRxiv : the preprint server for biology · 2023Article
- Population history modulates the fitness effects of Copy Number Variation in the Roma.Human genetics · 2023Article
117 more citing papers are in PubMed but not listed here.
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
Abstract
Rare copy-number variants (CNVs) have been implicated in autism and intellectual disability. These variants are large and affect many genes but lack clear specificity toward autism as opposed to developmental-delay phenotypes. We exploited the repeat architecture of the genome to target segmental duplication-mediated rearrangement hotspots (n = 120, median size 1.78 Mbp, range 240 kbp to 13 Mbp) and smaller hotspots flanked by repetitive sequence (n = 1,247, median size 79 kbp, range 3-96 kbp) in 2,588 autistic individuals from simplex and multiplex families and in 580 controls. Our analysis identified several recurrent large hotspot events, including association with 1q21 duplications, which are more likely to be identified in individuals with autism than in those with developmental delay (p = 0.01; OR = 2.7). Within larger hotspots, we also identified smaller atypical CNVs that implicated CHD1L and ACACA for the 1q21 and 17q12 deletions, respectively. Our analysis, however, suggested no overall increase in the burden of smaller hotspots in autistic individuals as compared to controls. By focusing on gene-disruptive events, we identified recurrent CNVs, including DPP10, PLCB1, TRPM1, NRXN1, FHIT, and HYDIN, that are enriched in autism. We found that as the size of deletions increases, nonverbal IQ significantly decreases, but there is no impact on autism severity; and as the size of duplications increases, autism severity significantly increases but nonverbal IQ is not affected. The absence of an increased burden of smaller CNVs in individuals with autism and the failure of most large hotspots to refine to single genes is consistent with a model where imbalance of multiple genes contributes to a disease state.
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