ArticleMolecular neurobiology2017
Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.
Article in Molecular neurobiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- Apical integration theory provides a neural basis for understanding disorganization and consciousness in the schizophrenias.Current research in neurobiology · 2026Article
- Xp22.33 Duplication Encompassing PAR1 in a Male with Syndromic Neurodevelopmental Disorder and Tall Stature.Genes · 2026Article
- An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Approach to Macrodactyly: A Case Report and Diagnostic Algorithm for Syndromic and Isolated Forms.Pediatric reports · 2025Article
- Characteristics of Adolescents with and without a Family History of Substance Use Disorder from a Minority Cohort.Children (Basel, Switzerland) · 2024Article
- Bridging the Mind and Gut: Uncovering the Intricacies of Neurotransmitters, Neuropeptides, and their Influence on Neuropsychiatric Disorders.Central nervous system agents in medicinal chemistry · 2024Review
- The X-factor in ART: does the use of assisted reproductive technologies influence DNA methylation on the X chromosome?Human genomics · 2023Article
- Identification ofFrontiers in molecular neuroscience · 2023Article
- Article
- Potentials of Neuropeptides as Therapeutic Agents for Neurological Diseases.Biomedicines · 2022Review
- Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.European journal of human genetics : EJHG · 2021Article
- Interacting impact of maternal inflammatory response and stress on the amygdala transcriptome of pigs.G3 (Bethesda, Md.) · 2021Article
- Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature.Molecular syndromology · 2021Article
- Generation of KS-133 as a Novel Bicyclic Peptide with a Potent and Selective VIPR2 Antagonist Activity that Counteracts Cognitive Decline in a Mouse Model of Psychiatric Disorders.Frontiers in pharmacology · 2021Article
- Probing theFrontiers in neuroscience · 2021Review
- Disruptive natural selection by male reproductive potential prevents underexpression of protein-coding genes on the human Y chromosome as a self-domestication syndrome.BMC genetics · 2020Article
- Recurrent Rare Copy Number Variants Increase Risk for Esotropia.Investigative ophthalmology & visual science · 2020Article
- The Potential Role of Gut Peptide Hormones in Autism Spectrum Disorder.Frontiers in cellular neuroscience · 2020Review
- Activation of the VPAC2 Receptor Impairs Axon Outgrowth and Decreases Dendritic Arborization in Mouse Cortical Neurons by a PKA-Dependent Mechanism.Frontiers in neuroscience · 2020Article
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Authors and funding
16 authors.
Funding
Abstract
Autism is a common neurodevelopmental disorder estimated to affect 1 in 68 children. Many studies have shown the role of copy number variants (CNVs) as a major contributor in the etiology of autism with the overall detection rate of about 10-15 % and over 20 % when syndromic forms of autism exist. In this study, we used array CGH to identify CNVs in 15 Iranian patients with autism. To elevate our diagnostic yield, we selected the sporadic patients who had additional clinical features including intellectual disability (ID), craniofacial anomaly, and seizure. Six out of 15 patients showed clinically relevant CNVs including pathogenic and likely pathogenic copy number gains or losses. We report a novel gene duplication syndrome (10q21.2q21.3 microduplication) and present a new evidence for VIPR2 duplication, as a candidate gene for autism. Furthermore, we describe the first manifesting carrier female with deletion of SLC6A8 and BCAP31 genes on Xq28. Our findings suggest that there might be a higher prevalence of clinically significant CNVs in patients with autism and additional clinical manifestations. The CNV analysis in such patients could lead to the discovery of novel syndromes as well as unraveling the etiology of autism.
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