Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder
Abstract
Background: Recurrent microdeletions and microduplications of ∼555 kb at 16p11.2 confer susceptibility to autism spectrum disorder (ASD) in up to 1% of ASD patients. No physical or behavioural features have been identified that distinguish these individuals as having a distinct ASD subtype, but clinical data are limited. Methods: We report five autistic probands identified by microarray analysis with copy number variation (CNV) of 16p11.2 (three deletions, two duplications). Each patient was assessed for ASD and dysmorphic features. We also describe a deletion positive 26-month-old female who has developmental delay (DD) and autistic features. Results: Proband 1 (female with ASD, de novo deletion) is not dysmorphic. Proband 2 (male with autism, de novo deletion) and proband 3 and his brother (males with autism, inherited deletions) are dysmorphic, but the two probands do not resemble one another. The mother of proband 3 has mild mental retardation (MR), minor dysmorphism and meets the criteria for ASD. Proband 4 (dysmorphic autistic male, de novo duplication) had a congenital diaphragmatic hernia. Proband 5 (non-dysmorphic ASD female with a duplication) has two apparently healthy duplication positive relatives. Probands 1 and 2 have deletion negative siblings with ASD and Asperger syndrome, respectively. Proband 6 (a female with DD and an inherited duplication) is dysmorphic, but has oligohydramnios sequence. Conclusions: The phenotypic spectrum associated with CNV at 16p11.2 includes ASD, MR/DD and/or possibly other primary psychiatric disorders. Compared with the microduplications, the reciprocal microdeletions are more likely to be penetrant and to be associated with non-specific major or minor dysmorphism. There are deletion positive ASD probands with a less severe phenotype than deletion negative ASD siblings underscoring the significant phenotypic heterogeneity.
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16p11.2 deletions and duplications are linked to depression and anxiety.
“16p11.2 deletions and duplications are linked to several other psychiatric conditions, including depression [14, 47] and anxiety [12, 14, 18, 19, 23, 34].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [18]
16p11 duplications are observed in ASD, schizophrenia, and various forms of developmental delay.
“Such is certainly the case with 16p11 duplications, which are observed in ASD, schizophrenia, and various forms of developmental delay [37–39]”
From Genetics of autism spectrum disorders (2011) · cites this paper as [37]
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- Authors
- Fernandez, B. A., Roberts, W., Chung, B., Weksberg, R., Meyn, S., Szatmari, P., Joseph-George, A. M., MacKay, S., Whitten, K., Noble, B., Vardy, C., Crosbie, V., Luscombe, S., Tucker, E., Turner, L., Marshall, C. R., & Scherer, S. W.
- Affiliations
- St. John’s Health Sciences Centre (CA)
- Hospital for Sick Children (CA)
- Eastern Health (CA)
- Memorial University of Newfoundland (CA)
- University of Toronto (CA)
- Corresponding author
- Fernandez, Bridget A
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2009-09-15
- Volume
- 47
- Issue
- 3
- Pages
- 195-203
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2118321207
- Cited by
- 335
- References
- 33
- Citations by year
- 2026: 6 · 2025: 8 · 2024: 9 · 2023: 18 · 2022: 18 · 2021: 27 · 2020: 20 · 2019: 14 · 2018: 16 · 2017: 16 · 2016: 17 · 2015: 19 · 2014: 18 · 2013: 21 · 2012: 29
- FWCI
- 21.06
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
- Funders
- Canadian Institutes of Health Research
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- 16p11.2, copy number variation, microdeletion, microduplication, autism spectrum disorder, phenotypic heterogeneity, dysmorphic features, intellectual disability, developmental delay, congenital diaphragmatic hernia, Asperger syndrome, penetrance, de novo mutations
- MeSH terms
- Adolescent, Adult, Child Development Disorders, Pervasive, Child, Preschool, Chromosomes, Human, Pair 16, Female, Humans, Male, Pedigree, Phenotype, Gene Deletion, Gene Duplication, Cytogenetic Analysis, Molecular Diagnostic Techniques, Inheritance Patterns, Genetic Association Studies
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