A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
Open accessAbstract
Background: The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders. Objective: To define the medical, neuropsychological, and behavioural phenotypes in carriers of this deletion. Methods: We collected clinical data on 285 deletion carriers and performed detailed evaluations on 72 carriers and 68 intrafamilial non-carrier controls. Results: When compared to intrafamilial controls, full scale intelligence quotient (FSIQ) is two standard deviations lower in carriers, and there is no difference between carriers referred for neurodevelopmental disorders and carriers identified through cascade family testing. Verbal IQ (mean 74) is lower than non-verbal IQ (mean 83) and a majority of carriers require speech therapy. Over 80% of individuals exhibit psychiatric disorders including ASD, which is present in 15% of the paediatric carriers. Increase in head circumference (HC) during infancy is similar to the HC and brain growth patterns observed in idiopathic ASD. Obesity, a major comorbidity present in 50% of the carriers by the age of 7 years, does not correlate with FSIQ or any behavioural trait. Seizures are present in 24% of carriers and occur independently of other symptoms. Malformations are infrequently found, confirming only a few of the previously reported associations. Conclusions: The 16p11.2 deletion impacts in a quantitative and independent manner FSIQ, behaviour and body mass index, possibly through direct influences on neural circuitry. Although non-specific, these features are clinically significant and reproducible. Lastly, this study demonstrates the necessity of studying large patient cohorts ascertained through multiple methods to characterise the clinical consequences of rare variants involved in common diseases.
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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 [12]
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 [12]
Several supporting studies also reported lower FSIQ scores in 16p11.2 deletion and duplication patients than in intrafamilial controls.
“Several supporting studies also reported lower FSIQ scores in 16p11.2 deletion [12, 35] and duplication [19, 35] patients than intrafamilial controls.”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [12]
In studies with at least 50 subjects, 60-76% of 16p11.2 deletions were reported as de novo, while only 16-29% of 16p11.2 duplications occurred de novo.
“In studies with at least 50 subjects, between 60–76% of 16p11.2 deletions were reported as de novo events [10, 12, 34, 36], while only 16–29% of 16p11.2 duplications occurred de novo [10, 19, 34, 36].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [12]
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 [12]
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 [12]
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 [12]
Several reports indicate higher BMI in 16p11.2 deletion patients.
“Several reports indicate higher BMI in 16p11.2 deletion patients [10, 12, 23].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [12]
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Psychiatric disorders in children with 16p11.2 deletion and duplication
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Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling
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Aberrant white matter microstructure in children with 16p11.2 deletions
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Self-citationContribution of mGluR5 to pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion
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Novel features of 3q29 deletion syndrome: Results from the 3q29 registry
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Self-citationObesity in adults with 22q11.2 deletion syndrome
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Self-citationGenetic causes of developmental disorders
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Expanding Horizons: Ciliary Proteins Reach Beyond Cilia
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A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2
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16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy
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Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions
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Self-citationMaternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV
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Self-citationAutism spectrum disorder, developmental and psychiatric features in 16p11.2 duplication
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The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes
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Self-citationGermline 16p11.2 Microdeletion Predisposes to Neuroblastoma
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Effects of eight neuropsychiatric copy number variants on human brain structure
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Self-citationGenomic Disorders in Psychiatry-What Does the Clinician Need to Know?
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New quality measure for SNP array based CNV detection
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Self-citationAbnormal speech motor control in individuals with 16p11.2 deletions
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Self-citation16p11.2 Locus modulates response to satiety before the onset of obesity
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Focal Cortical Anomalies and Language Impairment in 16p11.2 Deletion and Duplication Syndrome
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Self-citationMinor physical anomalies in neurodevelopmental disorders: a twin study
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PRRT2-related phenotypes in patients with a 16p11.2 deletion
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Rare genetic causes of complex kidney and urological diseases
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Rare and de novo coding variants in chromodomain genes in Chiari I malformation
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Self-citationLanguage characterization in 16p11.2 deletion and duplication syndromes
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Self-citation
- Authors
- Zufferey, F., Sherr, E. H., Beckmann, N. D., Hanson, E., Maillard, A. M., Hippolyte, L., Macé, A., Ferrari, C., Kutalik, Z., Andrieux, J., Aylward, E., Barker, M., Bernier, R., Bouquillon, S., Conus, P., Delobel, B., Faucett, W. A., Goin-Kochel, R. P., Grant, E., Harewood, L., Hunter, J. V., Lebon, S., Ledbetter, D. H., Martin, C. L., Männik, K., Martinet, D., Mukherjee, P., Ramocki, M. B., Spence, S. J., Steinman, K. J., Tjernagel, J., Spiro, J. E., Reymond, A., Beckmann, J. S., Chung, W. K., Jacquemont, S., on behalf of the Simons VIP Consortium, & on behalf of the 16p11.2 European Consortium
- Affiliations
- Centre Hospitalier Universitaire Vaudois (CH)
- University of California, San Francisco (US)
- Boston Children's Hospital (US)
- SIB Swiss Institute of Bioinformatics (CH)
- Centre Hospitalier Universitaire de Lille (FR)
- Seattle Children's Research Institute (US)
- University of Washington (US)
- Groupe Hospitalier de l'Institut Catholique de Lille (FR)
- Geisinger Medical Center (US)
- Department of Pediatrics, Psychology Section, Baylor College of Medicine, Houston, Texas, USA
- Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA
- University of Lausanne (CH)
- Baylor College of Medicine (US)
- Emory University (US)
- Simons Foundation (US)
- Columbia University Irving Medical Center (US)
- Corresponding author
- Chung, Wendy K
- ORCID
- Sherr, Elliott H
- Beckmann, Noam D
- Hanson, Ellen
- Maillard, Anne M
- Macé, Aurélien
- Kutalik, Zoltán
- Aylward, Elizabeth
- Bernier, Raphael
- Conus, Philippe
- Faucett, W Andrew
- Harewood, Louise
- Hunter, Jill V
- Lebon, Sébastien
- Ledbetter, David H
- Mukherjee, Pratik
- Spence, Sarah J
- Steinman, Kyle J
- Spiro, John E
- Reymond, Alexandre
- Beckmann, Jacques S
- Chung, Wendy K
- Jacquemont, Sébastien
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2012-10
- Volume
- 49
- Issue
- 10
- Pages
- 660-668
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC3494011
- OpenAlex
- W2117381227
- Cited by
- 326
- References
- 55
- Citations by year
- 2026: 7 · 2025: 12 · 2024: 28 · 2023: 18 · 2022: 22 · 2021: 21 · 2020: 24 · 2019: 25 · 2018: 53 · 2017: 25 · 2016: 20 · 2015: 26 · 2014: 29 · 2013: 15
- FWCI
- 13.27
- Type
- journal article
- Language
- en
- Update notices
- correction (2014-07-01)
- Open access
- hybrid
- doi.org
- Licence
- cc-by-nc
- Locations
- Journal of Medical Genetics (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- SERVAL (Université de Lausanne) (publishedVersion, cc-by)
- IRIS (submittedVersion, cc-by)
- Minerva Access (University of Melbourne) (submittedVersion, cc-by-nc)
- Use Siena air (University of Siena) (submittedVersion, cc-by-nc)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- HAL (submittedVersion)
- BORIS (University Library Bern) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by-nc)
- Research Portal (Queen's University Belfast) (submittedVersion)
- SERVAL (Université de Lausanne) (submittedVersion)
- Funders
- National Science Foundation
- Simons Foundation
- Simons Foundation Autism Research Initiative
- European Commission
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
- Fondation Leenaards
- Université de Lausanne
- European Regional Development Fund
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK052431)
- 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
- 16p11.2 deletion syndrome, autism spectrum disorder, neuropsychiatric disorders, intellectual disability, obesity, seizures, head circumference, energy imbalance, neurodevelopmental disorders, rare variants, phenotypic characterization
- MeSH terms
- Adolescent, Adult, Child, Developmental Disabilities, Child Development Disorders, Pervasive, Chromosome Deletion, Chromosomes, Human, Pair 16, Female, Heterozygote, Humans, Intelligence Tests, Male, Phenotype, Syndrome, Body Mass Index, Gene Order, Young Adult
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