ArticleAutism research : official journal of the International Society for Autism Research2013
The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.
Article in Autism research : official journal of the International Society for Autism Research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers, 2 of them syntheses that pooled it.
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104 citing papers in PubMed, 2 syntheses or guidelines pooled it, 166 citations in OpenAlex.
- Presymptomatic Biological, Structural, and Functional Diagnostic Biomarkers of Autism Spectrum Disorder.Journal of neurochemistry · 2025Pooled it
- Glutamatergic candidate genes in autism spectrum disorder: an overview.Journal of neural transmission (Vienna, Austria : 1996) · 2014Pooled it
- Mechanisms underlying the EEG biomarker in Dup15q syndrome.Molecular autism · 2019Trial
- Article
- Excess EEG beta-band oscillations in Dup15q syndrome correlate with clinical severity.Translational psychiatry · 2026Article
- RO4938581, a GABAMolecular psychiatry · 2026Article
- Neonatal social communication and single genes predict the variability of post-pubertal social behavior in a mouse model of paternal 15q11-13 duplication.Research square · 2026Article
- Article
- A rareFrontiers in genetics · 2026Article
- Deciphering copy number variations and gene implications in an Egyptian cohort with autism spectrum disorders.BMC medical genomics · 2025Article
- Role of androgen receptors in sexually dimorphic phenotypes in UBE3A-dependent autism spectrum disorder.iScience · 2025Article
- Molecular diagnosis of 405 individuals with autism spectrum disorder.European journal of human genetics : EJHG · 2024Article
- Review
- Glial expression of Drosophila UBE3A causes spontaneous seizures that can be modulated by 5-HT signaling.Neurobiology of disease · 2024Article
- Prenatal diagnosis and genetic analysis of small supernumerary marker chromosomes in the eastern chinese han population: A retrospective study of 36 cases.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2024Article
- Sleep EEG signatures in mouse models of 15q11.2-13.1 duplication (Dup15q) syndrome.Journal of neurodevelopmental disorders · 2024Article
- Sex-biasing influence of autism-associatedScience advances · 2024Article
- Family-based GWAS for dental class I malocclusion and clefts.BMC oral health · 2024Article
- The role of glia in the dysregulation of neuronal spinogenesis in Ube3a-dependent ASD.Experimental neurology · 2024Article
- Sexually dimorphic phenotypes and the role of androgen receptors in UBE3A-dependent autism spectrum disorder.bioRxiv : the preprint server for biology · 2024Article
44 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chromosomal copy number variants (CNV) are the most common genetic lesion found in autism. Many autism-associated CNVs are duplications of chromosome 15q. Although most cases of interstitial (int) dup(15) that present clinically are de novo and maternally derived or inherited, both pathogenic and unaffected paternal duplications of 15q have been identified. We performed a phenotype/genotype analysis of individuals with interstitial 15q duplications to broaden our understanding of the 15q syndrome and investigate the contribution of 15q duplication to increased autism risk. All subjects were recruited solely on the basis of interstitial duplication 15q11.2-q13 status. Comparative array genome hybridization was used to determine the duplication size and boundaries while the methylation status of the maternally methylated small nuclear ribonucleoprotein polypeptide N gene was used to determine the parent of origin of the duplication. We determined the duplication size and parental origin for 14 int dup(15) subjects: 10 maternal and 4 paternal cases. The majority of int dup(15) cases recruited were maternal in origin, most likely due to our finding that maternal duplication was coincident with autism spectrum disorder. The size of the duplication did not correlate with the severity of the phenotype as established by Autism Diagnostic Observation Scale calibrated severity score. We identified phenotypes not comprehensively described before in this cohort including mild facial dysmorphism, sleep problems and an unusual electroencephalogram variant. Our results are consistent with the hypothesis that the maternally expressed ubiquitin protein ligase E3A gene is primarily responsible for the autism phenotype in int dup(15) since all maternal cases tested presented on the autism spectrum.
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