Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals
Abstract
Array CGH (comparative genomic hybridization) screening of large patient cohorts with mental retardation and/or multiple congenital anomalies (MR/MCA) has led to the identification of a number of new microdeletion and microduplication syndromes. Recently, a recurrent copy number variant (CNV) at chromosome 16p11.2 was reported to occur in up to 1% of autistic patients in three large autism studies. In the screening of 4284 patients with MR/MCA with various array platforms, we detected 22 individuals (14 index patients and 8 family members) with deletions in 16p11.2, which are genomically identical to those identified in the autism studies. Though some patients shared a facial resemblance and a tendency to overweight, there was no evidence for a recognizable phenotype. Autism was not the presenting feature in our series. The assembled evidence indicates that recurrent 16p11.2 deletions are associated with variable clinical outcome, most likely arising from haploinsufficiency of one or more genes. The phenotypical spectrum ranges from MR and/or MCA, autism, learning and speech problems, to a normal phenotype.
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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 [33]
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 [33]
Clinical phenotypes associated with rearrangements at 1q21.1 and 16p11.2 are diverse and include pediatric neurodevelopmental disorders and adult psychiatric conditions.
“The clinical phenotypes associated with a single allele are diverse and include pediatric neurodevelopmental disorders and adult psychiatric conditions.”
From CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics (2012) · cites this paper as Bijlsma et al., 2009
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 [38]
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- Authors
- Bijlsma, E. K., Gijsbers, A. C. J., Schuurs-Hoeijmakers, J. H. M., van Haeringen, A., Fransen van de Putte, D. E., Anderlid, B.-M., Lundin, J., Lapunzina, P., Pérez Jurado, L. A., Delle Chiaie, B., Loeys, B., Menten, B., Oostra, A., Verhelst, H., Amor, D. J., Bruno, D. L., van Essen, A. J., Hordijk, R., Sikkema-Raddatz, B., Verbruggen, K. T., Jongmans, M. C. J., Pfundt, R., Reeser, H. M., Breuning, M. H., & Ruivenkamp, C. A. L.
- Affiliations
- Leiden University Medical Center (NL)
- Karolinska University Hospital (SE)
- Hospital Universitario La Paz (ES)
- Ghent University Hospital (BE)
- Royal Children's Hospital (AU)
- University Medical Center Groningen (NL)
- Radboud University Medical Center (NL)
- Haga Hospital (NL)
- Corresponding author
- Bijlsma, E.K.
- ORCID
- Venue
- European Journal of Medical Genetics
- Publisher
- Elsevier BV
- Published
- 2009-03
- Volume
- 52
- Issue
- 2-3
- Pages
- 77-87
- ISSN
- 1769-7212 (ISSN-L)
- OpenAlex
- W2107876174
- Cited by
- 282
- References
- 25
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 10 · 2023: 7 · 2022: 10 · 2021: 19 · 2020: 13 · 2019: 10 · 2018: 11 · 2017: 11 · 2016: 8 · 2015: 14 · 2014: 16 · 2013: 15 · 2012: 31
- FWCI
- 26.32
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- European Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- DIGITAL.CSIC (Spanish National Research Council (CSIC)) (submittedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- 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 deletion, copy number variation, intellectual disability, multiple congenital anomalies, autism spectrum disorder, haploinsufficiency, microdeletion syndromes, phenotypic variability, face similarity
- MeSH terms
- Abnormalities, Multiple, Adolescent, Adult, Autistic Disorder, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 16, DNA Mutational Analysis, Family Health, Female, Genetic Testing, Humans, Infant, Learning Disabilities, Male, Intellectual Disability, Speech Disorders, 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.
What counts as a claim ›How we measure confidence ›How we check this ›
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