Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity
Open accessAbstract
Numerous genes are associated with neurodevelopmental disorders such as intellectual disability and autism spectrum disorder (ASD), but their dysfunction is often poorly characterized. Here we identified dominant mutations in the gene encoding the transcriptional repressor and MeCP2 interactor switch-insensitive 3 family member A (SIN3A; chromosome 15q24.2) in individuals who, in addition to mild intellectual disability and ASD, share striking features, including facial dysmorphisms, microcephaly and short stature. This phenotype is highly related to that of individuals with atypical 15q24 microdeletions, linking SIN3A to this microdeletion syndrome. Brain magnetic resonance imaging showed subtle abnormalities, including corpus callosum hypoplasia and ventriculomegaly. Intriguingly, in vivo functional knockdown of Sin3a led to reduced cortical neurogenesis, altered neuronal identity and aberrant corticocortical projections in the developing mouse brain. Together, our data establish that haploinsufficiency of SIN3A is associated with mild syndromic intellectual disability and that SIN3A can be considered to be a key transcriptional regulator of cortical brain development.
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For some of these monogenic syndromes it has recently been shown that deficits in the structural development of the PFC underlie these problems.
“For some of these syndromes it has recently been shown that deficits in the structural development of the PFC underlie these problems [281–287].”
From Development of prefrontal cortex (2022) · cites this paper as [281]
The Abstract (page not provided) links SIN3A haploinsufficiency to mild syndromic intellectual disability and reports altered cortical development in mice. The Figure 1 caption (page not provided) describes seemingly underdeveloped frontal lobes in one person, but cautions that the MRI quality was suboptimal. These findings do not establish that structural deficits specifically in the PFC underlie the syndrome’s problems. (LLM, conf=0.84)
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Chromosome Instability Syndromes
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Chromosome Abnormalities Detected at Prenatal Diagnosis
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The Origins and Consequences of Chromosome Pathology
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Elements of Medical Cytogenetics
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Left-Sided Heart Defects and Laterality Disturbance in Hypoplastic Left Heart Syndrome
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Witteveen–Kolk Syndrome With Cleft Palate: A Case Report and Review of the Literature
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Preimplantation Genetic Diagnosis
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Novel phenotype of SIN3A-related disorder diagnosed in adulthood with multi-system involvement
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Uniparental Disomy and Disorders of Imprinting
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Sex Chromosome Aneuploidy and Structural Rearrangement
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0015 · Cited by 1 · see citing works
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Deriving and Using A Risk Figure
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0004
Gonadal Cytogenetic Damage from Exposure to Extrinsic Agents
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0024
Chromosomal Disorders of Sex Development
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0023
Characterisation of the gene PTPRS in the development of the cerebral cortex
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Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0017
Autosomal Structural Rearrangements
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0014
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0020
Down Syndrome, Other Full Aneuploidies, Polyploidy, and the Influence of Parental Age
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0013
- Authors
- Witteveen, J. S., Willemsen, M. H., Dombroski, T. C. D., van Bakel, N. H. M., Nillesen, W. M., van Hulten, J. A., Jansen, E. J. R., Verkaik, D., Veenstra-Knol, H. E., van Ravenswaaij-Arts, C. M. A., Wassink-Ruiter, J. S. K., Vincent, M., David, A., Le Caignec, C., Schieving, J., Gilissen, C., Foulds, N., Rump, P., Strom, T., Cremer, K., Zink, A. M., Engels, H., de Munnik, S. A., Visser, J. E., Brunner, H. G., Martens, G. J. M., Pfundt, R., Kleefstra, T., & Kolk, S. M.
- Affiliations
- Radboud University Nijmegen (NL)
- Centre Hospitalier Universitaire de Nantes (FR)
- Radboud University Medical Center (NL)
- National Health Service (GB)
- University Medical Center Groningen (NL)
- Helmholtz Munich (DE)
- University of Bonn (DE)
- Corresponding author
- Kleefstra, Tjitske
- Kolk, Sharon M
- ORCID
- Venue
- Nature Genetics
- Published
- 2016-07-11
- Volume
- 48
- Issue
- 8
- Pages
- 877-887
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2471236541
- Cited by
- 128
- References
- 85
- Citations by year
- 2026: 4 · 2025: 9 · 2024: 13 · 2023: 13 · 2022: 10 · 2021: 6 · 2020: 14 · 2019: 12 · 2018: 41 · 2017: 5 · 2016: 1
- FWCI
- 15.86
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- Site cant be reached (submittedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion, other-oa)
- PuSH - Publication Server of Helmholtz Zentrum München (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- Funders
- Wellcome Trust
- ZonMw (907-00-365)
- Radboud Universiteit
- Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
- Radboud Universitair Medisch Centrum
- Medical Research Council
- Ciência sem Fronteiras
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Neuroscience › Developmental Neuroscience › Neurogenesis and neuroplasticity mechanisms
- Keywords
- SIN3A, haploinsufficiency, intellectual disability, MeCP2, corepressors, cortical development, cortical neurogenesis, neuronal identity, corticocortical connections, autism spectrum disorder, corpus callosum hypoplasia, ventriculomegaly, neurodevelopmental disorders, mouse brain development
- MeSH terms
- Abnormalities, Multiple, Adolescent, Adult, Animals, Cerebral Cortex, Child, Child, Preschool, Chromosome Deletion, Female, Humans, Male, Intellectual Disability, Middle Aged, Mutation, Phenotype, Repressor Proteins, Syndrome, Mice, Methyl-CpG-Binding Protein 2, Neurogenesis, Young Adult, Sin3 Histone Deacetylase and Corepressor Complex, Haploinsufficiency, Agenesis of Corpus Callosum
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