ArticleNature genetics2016
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.
Article in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
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Who cites it
58 citing papers in PubMed, 130 citations in OpenAlex.
- SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.European journal of human genetics : EJHG · 2019Trial
- Two Unrelated Witteveen-Kolk Syndrome Patients Presenting with Unusual Clinical Features: Dual Diagnosis and Atypical Rare Manifestation.Molecular syndromology · 2026Article
- Personalized Treatment in Rare Genetic Syndromes: A Case-Report in Witteveen-Kolk Syndrome (SIN3A).Molecular syndromology · 2026Article
- Chromatin context-dependent deacetylation by the asymmetric Rpd3L.Nucleic acids research · 2026Article
- CRISPR tiling deletion screens reveal functional enhancers and allelic compensation effects (ACE) on SIN3A transcription.Nature communications · 2026Article
- Hierarchical regulation of cerebellar neurogenesis by Sin3A-mediated gene repression.bioRxiv : the preprint server for biology · 2025Article
- Filamin A in focus: unravelling the multifaceted roles of filamin A in neurodevelopment and neurological disorders.Brain : a journal of neurology · 2025Review
- Report on Witteveen-Kolk syndrome caused by large fragment deletion in the 15q24.1 - q24.2 region in infants with early onset and literature review.Italian journal of pediatrics · 2025Review
- Expanding the phenotyping spectrum of Witteveen Kolk syndrome: first report of generalized dystonia and cerebellar ataxia.Acta neurologica Belgica · 2025Article
- Regulatory non-coding somatic mutations as drivers of neuroblastoma.British journal of cancer · 2025Article
- Mitotic block and epigenetic repression underlie neurodevelopmental defects and neurobehavioral deficits in congenital heart disease.Nature communications · 2025Article
- Impact of life adversity and gene expression on psychiatric symptoms in children and adolescents: findings from the Brazilian high risk cohort study.Frontiers in psychiatry · 2025Article
- Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.NPJ genomic medicine · 2024Article
- Validation of a Paralimbic-Related Subcortical Brain Dysmaturation MRI Score in Infants with Congenital Heart Disease.Journal of clinical medicine · 2024Article
- O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.The Journal of biological chemistry · 2024Review
- A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene.Molecular syndromology · 2024Article
- Novel phenotype of SIN3A-related disorder diagnosed in adulthood with multi-system involvement.European journal of human genetics : EJHG · 2024Article
- ZSWIM4 regulates embryonic patterning and BMP signaling by promoting nuclear Smad1 degradation.EMBO reports · 2024Article
- Rescuing lung development through embryonic inhibition of histone acetylation.Science translational medicine · 2024Article
- Epigenetic regulation of craniofacial development and disease.Birth defects research · 2024Review
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Authors and funding
29 authors at 7 institutions in 4 countries.
Funding
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Abstract
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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