The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature
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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 A utism D iagnostic O bservation S cale 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. Autism Res 2013, ●●: ●●–●●. © 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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Paternally derived 15q11-q13 duplications appear to have incomplete penetrance in comparison to maternal ones.
“Although paternally derived duplications appear to have incomplete penetrance in comparison to maternal ones, there have been several cases reported in subjects with ASD.43”
From Convergence of genes and cellular pathways dysregulated in autism spectrum disorders (2014) · cites this paper as [43]
There have been several cases of paternally derived 15q11-q13 duplications reported in subjects with ASD.
“Although paternally derived duplications appear to have incomplete penetrance in comparison to maternal ones, there have been several cases reported in subjects with ASD.43”
From Convergence of genes and cellular pathways dysregulated in autism spectrum disorders (2014) · cites this paper as [43]
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- Authors
- Urraca, N., Cleary, J., Brewer, V., Pivnick, E. K., McVicar, K., Thibert, R. L., Schanen, N. C., Esmer, C., Lamport, D., & Reiter, L. T.
- Affiliations
- University of Tennessee Health Science Center (US)
- University of Memphis (US)
- Department of Pediatrics University of Tennessee Health Science Center Memphis Tennessee
- Massachusetts General Hospital (US)
- Human Genetics Research Laboratory Nemours Biomedical Research Wilmington Delaware
- Hospital Central Dr. Ignacio Morones Prieto (MX)
- University of South Alabama (US)
- Corresponding author
- Reiter, Lawrence T.
- Venue
- Autism Research
- Publisher
- Wiley
- Published
- 2013-03-14
- Volume
- 6
- Issue
- 4
- Pages
- 268-279
- ISSN
- 1939-3792 (ISSN-L)
- 1939-3806
- PMC
- PMC3884762
- OpenAlex
- W1591252575
- Cited by
- 164
- References
- 61
- Citations by year
- 2026: 14 · 2025: 6 · 2024: 16 · 2023: 16 · 2022: 8 · 2021: 16 · 2020: 12 · 2019: 9 · 2018: 14 · 2017: 11 · 2016: 12 · 2015: 16 · 2014: 12 · 2013: 2
- FWCI
- 9.28
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Autism Research (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Keywords
- autism spectrum disorder, maternal inheritance, parent of origin, facial dysmorphism, sleep disorders, EEG abnormalities, UBE3A, genotype-phenotype correlation, autism risk
- MeSH terms
- Adolescent, Autistic Disorder, Child, Child, Preschool, Chromosome Aberrations, Chromosomes, Human, Pair 15, Electroencephalography, Female, Genotype, Humans, Male, Intellectual Disability, Phenotype, Risk Factors, Sleep Wake Disorders, Cohort Studies, In Situ Hybridization, Fluorescence, Facies, Gene Duplication, DNA Copy Number Variations
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