Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.
Open accessAbstract
Background: Segmental duplications at breakpoints (BP4–BP5) of chromosome 15q13.2q13.3 mediate a recurrent genomic imbalance syndrome associated with mental retardation, epilepsy, and/or electroencephalogram (EEG) abnormalities. Patients: DNA samples from 1445 unrelated patients submitted consecutively for clinical array comparative genomic hybridisation (CGH) testing at Children’s Hospital Boston and DNA samples from 1441 individuals with autism from 751 families in the Autism Genetic Resource Exchange (AGRE) repository. Results: We report the clinical features of five patients with a BP4–BP5 deletion, three with a BP4–BP5 duplication, and two with an overlapping but smaller duplication identified by whole genome high resolution oligonucleotide array CGH. These BP4–BP5 deletion cases exhibit minor dysmorphic features, significant expressive language deficits, and a spectrum of neuropsychiatric impairments that include autism spectrum disorder, attention deficit hyperactivity disorder, anxiety disorder, and mood disorder. Cognitive impairment varied from moderate mental retardation to normal IQ with learning disability. BP4–BP5 covers ∼1.5 Mb (chr15:28.719–30.298 Mb) and includes six reference genes and 1 miRNA gene, while the smaller duplications cover ∼500 kb (chr15:28.902–29.404 Mb) and contain three reference genes and one miRNA gene. The BP4–BP5 deletion and duplication events span CHRNA7 , a candidate gene for seizures. However, none of these individuals reported here have epilepsy, although two have an abnormal EEG. Conclusions: The phenotype of chromosome 15q13.2q13.3 BP4–BP5 microdeletion/duplication syndrome may include features of autism spectrum disorder, a variety of neuropsychiatric disorders, and cognitive impairment. Recognition of this broader phenotype has implications for clinical diagnostic testing and efforts to understand the underlying aetiology of this syndrome.
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Rare CNVs at 1q21.1 and 15q13.2-13.3 have been reported in developmental and neuropsychiatric syndromes, and deletions there occur in ASD, schizophrenia, and idiopathic epilepsy.
“rare 1q21.1 and 15q13.2-13.3 CNVs have been identified in developmental and neuropsychiatric syndromes, with deletions found in ASD (Miller et al., 2009; Shen et al., 2010), schizophrenia (ISC, 2008; Stefansson et al., 2008), idiopathic epilepsy (Helbig et al., 2009)”
From Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism (2011) · cites this paper as Miller et al., 2009
The three ASD patients with de novo SHANK2 deletions also carried CNVs on chromosome 15q11-q13, a region associated with ASD.
“Notably, the three ASD patients with de novo SHANK2 deletions also carried CNVs on chromosome 15q11–q13, a region associated with ASD [43], [47], [48], [50]–[52], [72].”
From Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders (2012) · cites this paper as [43]
CHRNA7 and CYFIP1 were already proposed as susceptibility genes for neuropsychiatric disorders, and our study provides additional support for this association.
“CHRNA7 and CYFIP1 were already proposed as susceptibility genes for neuropsychiatric disorders [43], [45], [49], [51], and our study provides additional support for this association.”
From Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders (2012) · cites this paper as [43]
Larger 15q13.3 deletions (~1.5 Mb) between BP4 and BP5, encompassing the CHRNA7 locus, have been associated with ID, epilepsy, schizophrenia, and ASD.
“In contrast, larger 15q13.3 deletions (∼1.5 Mb) between BP4 and BP5, encompassing the CHRNA7 locus have been associated with disorders such as ID, epilepsy, schizophrenia, and ASD [43], [46]–[48], [50], [52]–[54], [57]–[59].”
From Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders (2012) · cites this paper as [43]
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- Authors
- Miller, D. T., Shen, Y., Weiss, L. A., Korn, J., Anselm, I., Bridgemohan, C., Cox, G. F., Dickinson, H., Gentile, J., Harris, D. J., Hegde, V, Hundley, R., Khwaja, O., Kothare, S., Luedke, C., Nasir, R., Poduri, A., Prasad, K., Raffalli, P., Reinhard, A., Smith, S. E., Sobeih, M. M., Soul, J. S., Stoler, J., Takeoka, M., Tan, W.-H., Thakuria, J., Wolff, R., Yusupov, R., Gusella, J. F., Daly, M. J., & Wu, B.-L.
- Affiliations
- Boston Children's Hospital (US)
- Broad Institute (US)
- Corresponding author
- Wu, B-L
- ORCID
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2008-09-19
- Volume
- 46
- Issue
- 4
- Pages
- 242-248
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC4090085
- OpenAlex
- W2140383855
- Cited by
- 427
- References
- 50
- Citations by year
- 2026: 4 · 2025: 5 · 2024: 9 · 2023: 8 · 2022: 11 · 2021: 22 · 2020: 13 · 2019: 6 · 2018: 39 · 2017: 16 · 2016: 12 · 2015: 22 · 2014: 35 · 2013: 36 · 2012: 29
- FWCI
- 30.20
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Autism Speaks (AS2042)
- National Institutes of Health (5k30rr022292-08)
- National Institute of Mental Health (U24MH081810)
- National Institute of General Medical Sciences (P01GM061354)
- National Center for Research Resources (K30RR022292-07, K30 RR022292)
- 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, neuropsychiatric disorders, attention deficit hyperactivity disorder, anxiety disorders, mood disorders, cognitive impairment, CHRNA7, microRNA genes, EEG abnormalities
- MeSH terms
- Adolescent, Autistic Disorder, Child, Child, Preschool, Chromosome Aberrations, Chromosome Deletion, Chromosomes, Human, Pair 15, Female, Humans, Infant, Male, Intellectual Disability, Phenotype, Gene Duplication, Comparative Genomic Hybridization, Young Adult
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
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