Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
Open accessAbstract
Background: Deletion and the reciprocal duplication in 16p11.2 were recently associated with autism and developmental delay. Method: We indentified 27 deletions and 18 duplications of 16p11.2 were identified in 0.6% of all samples submitted for clinical array-CGH (comparative genomic hybridisation) analysis. Detailed molecular and phenotypic characterisations were performed on 17 deletion subjects and ten subjects with the duplication. Results: The most common clinical manifestations in 17 deletion and 10 duplication subjects were speech/language delay and cognitive impairment. Other phenotypes in the deletion patients included motor delay (50%), seizures (∼40%), behavioural problems (∼40%), congenital anomalies (∼30%), and autism (∼20%). The phenotypes among duplication patients included motor delay (6/10), behavioural problems (especially attention deficit hyperactivity disorder (ADHD)) (6/10), congenital anomalies (5/10), and seizures (3/10). Patients with the 16p11.2 deletion had statistically significant macrocephaly (p<0.0017) and 6 of the 10 patients with the duplication had microcephaly. One subject with the deletion was asymptomatic and another with the duplication had a normal cognitive and behavioural phenotype. Genomic analyses revealed additional complexity to the 16p11.2 region with mechanistic implications. The chromosomal rearrangement was de novo in all but 2 of the 10 deletion cases in which parental studies were available. Additionally, 2 de novo cases were apparently mosaic for the deletion in the analysed blood sample. Three de novo and 2 inherited cases were observed in the 5 of 10 duplication patients where data were available. Conclusions: Recurrent reciprocal 16p11.2 deletion and duplication are characterised by a spectrum of primarily neurocognitive phenotypes that are subject to incomplete penetrance and variable expressivity. The autism and macrocephaly observed with deletion and ADHD and microcephaly seen in duplication patients support a diametric model of autism spectrum and psychotic spectrum behavioural phenotypes in genomic sister disorders.
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Deletions and duplications of 16p11.2 have highly pleiotropic phenotypic effects, with strong links to ASD, ID, motor/developmental delay, dysmorphic features, and epilepsy/seizures.
“Deletions and duplications of 16p11.2 have highly pleiotropic phenotypic effects, with strong links to ASD [8–19], ID [8, 10, 12, 14–16, 19–21], motor/developmental delay [8–10, 12, 13, 15–19, 22], dysmorphic features [8, 12, 16, 17, 22], and epilepsy/seizures [10, 12, 17].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [17]
16p11.2 deletions are associated with macrocephaly and obesity, while duplications often lead to microcephaly and low body weight/BMI.
“Deletions of 16p11.2 are associated with increased head circumference (macrocephaly) [10, 12, 17, 23] and obesity [10, 12, 16, 20], whereas duplications often result in below average head size (microcephaly) [10, 17, 23, 24] and low body weight/BMI [10, 24].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [17]
Motor delays are reported at rates of 57.1% and 50% in 16p11.2 deletion carriers, and in 60% of duplication carriers.
“Motor delays are reported at rates of 57.1% [15] and 50% [17] in deletion carriers, and in 60% of duplication carriers [17].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [17]
In individuals with neurodevelopmental disorders, genetic screenings find 16p11.2 deletions at rates of 0.25-2.9% and duplications at rates of 0.15-0.78%.
“Data compiled from eight studies [13, 15–17, 20, 24, 26, 33] screening individuals with either ASD, ID, developmental delay (DD), dysmorphic features (DF), multiple congenital anomalies (MCA), obesity, or seizures find 16p11.2 deletions at rates of 0.25–2.9%, and duplications at rates between 0.15–0.78% (Table 1).”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [17]
Epilepsy/seizures ranks among the most common phenotypes observed in both 16p11.2 deletions and duplications.
“Epilepsy/seizures ranks among the most common phenotypes observed in both 16p11.2 deletions and duplications [10, 12, 16, 17, 33, 36] (Table 2).”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [17]
16p11.2 duplications are similarly associated with speech articulation abnormalities, speech delay, and language deficits.
“Duplications are similarly associated with speech articulation abnormalities [36], speech delay [17, 19], and language deficits [16].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [17]
ADHD is observed in 16p11.2 CNV carriers at rates as high as 29% (63/217) in deletion carriers and 42% (48/114) in duplication carriers.
“Attention-deficit/hyperactivity disorder (ADHD) is also observed in 16p11.2 CNV carriers [12, 15–17, 19, 23, 48], at rates as high as 29% (63/217) and 42% (48/114) in deletion and duplication carriers, respectively [34].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [17]
Recurrent ASD-associated CNVs such as 16p11.2 are linked not only to ASD but also to schizophrenia, epilepsy, ADHD, and obesity.
“Variability of phenotype is also characteristic of recurrent ASD-associated CNVs, such as 16p11.2, which has been linked not only to ASD but also to schizophrenia, epilepsy, ADHD, and obesity (Mccarthy et al., 2009; Shinawi et al., 2010; Walters et al., 2010; Weiss et al., 2008).”
From Using Whole-Exome Sequencing to Identify Inherited Causes of Autism (2013) · cites this paper as Shinawi et al., 2010
Reciprocal deletion and duplication of 16p11.2 result in similar brain structural alterations in human and mouse, with deletion associated with brain overgrowth and duplication with reduced brain volume.
“For example reciprocal deletion and duplication of 16p11.2 result in similar brain structural alterations in human and mouse, the deletion associated with brain overgrowth and the duplication associated with reduced brain volume (Horev et al., 2011; McCarthy et al., 2009; Shinawi et al., 2010), and structural alterations appear to be widely distributed across multiple brain regions.”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Shinawi et al., 2010
Structural alterations from 16p11.2 CNV appear to be widely distributed across multiple brain regions.
“For example reciprocal deletion and duplication of 16p11.2 result in similar brain structural alterations in human and mouse, the deletion associated with brain overgrowth and the duplication associated with reduced brain volume (Horev et al., 2011; McCarthy et al., 2009; Shinawi et al., 2010), and structural alterations appear to be widely distributed across multiple brain regions.”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Shinawi et al., 2010
Macrocephaly is observed in subjects with the 16p11.2 microdeletion, whereas carriers of the duplication show microcephaly.
“Macrocephaly is observed in subjects with the 16p11.2 microdeletion, whereas carriers of the duplication show microcephaly [227, 292, 326, 337].”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [326]
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- Authors
- Shinawi, M., Liu, P., Kang, S.-H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., Clark, G., Lee, J., Proud, M., Stocco, A., Rodriguez, D. L., Kozel, B. A., Sparagana, S., Roeder, E. R., McGrew, S. G., Kurczynski, T. W., Allison, L. J., Amato, S., Savage, S., Patel, A., Stankiewicz, P., Beaudet, A. L., Cheung, S. W., & Lupski, J. R.
- Affiliations
- Baylor College of Medicine (US)
- Children's Hospital Central California (US)
- Texas Children's Hospital (US)
- Washington University in St. Louis (US)
- Texas Scottish Rite Hospital for Children (US)
- The University of Texas at San Antonio Health Science Center (US)
- Monroe Carell Jr. Children's Hospital (US)
- Akron Children's Hospital (US)
- Eastern Maine Medical Center (US)
- Corresponding author
- Cheung, Sau Wai
- ORCID
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2009-11-12
- Volume
- 47
- Issue
- 5
- Pages
- 332-341
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC3158566
- OpenAlex
- W2151523001
- Cited by
- 580
- References
- 49
- Citations by year
- 2026: 10 · 2025: 17 · 2024: 21 · 2023: 26 · 2022: 24 · 2021: 33 · 2020: 21 · 2019: 35 · 2018: 62 · 2017: 23 · 2016: 25 · 2015: 44 · 2014: 36 · 2013: 43 · 2012: 58
- FWCI
- 31.02
- 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
- National Institute of Neurological Disorders and Stroke (R01NS058529)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD037283)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- 16p11.2, 16p11.2 deletion, 16p11.2 duplication, global developmental delay, autism spectrum disorder, macrocephaly, microcephaly, epilepsy, attention deficit hyperactivity disorder, behavioral problems, dysmorphic features, de novo rearrangement, mosaicism, incomplete penetrance, variable expressivity, neurocognitive phenotype, array comparative genomic hybridization
- MeSH terms
- Abnormalities, Multiple, Adolescent, Attention Deficit Disorder with Hyperactivity, Autistic Disorder, Child, Developmental Disabilities, Child, Preschool, Chromosome Aberrations, Chromosome Deletion, Chromosomes, Human, Pair 16, Epilepsy, Female, Humans, Infant, Language Development Disorders, Male, Intellectual Disability, Microcephaly, Phenotype, Craniofacial Abnormalities, Oligonucleotide Array Sequence Analysis, Comparative Genomic Hybridization, Young Adult, Segmental Duplications, Genomic
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