ArticleNature genetics2012
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
Article in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 127 papers, 1 of them a synthesis that pooled it.
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Who cites it
127 citing papers in PubMed, 1 synthesis or guideline pooled it, 243 citations in OpenAlex.
- Shorter Telomeres and Faster Telomere Attrition in Individuals With Five Syndromic Forms of Intellectual Disability: A Systematic Review and Meta-Analysis.Journal of intellectual disability research : JIDR · 2025Pooled it
- Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.Human genetics · 2015Trial
- Structural genomic variation in childhood epilepsies with complex phenotypes.European journal of human genetics : EJHG · 2014Trial
- Blended Phenotypes in Siblings: Dual Diagnoses of Nicolaides-Baraitser and Craniosynostosis Syndromes.Molecular syndromology · 2026Article
- Neurabin I haploinsufficiency disrupts ion channel regulation and synaptic maturation in human cortical neurons in neurodevelopmental disorders.Molecular psychiatry · 2026Article
- Genome-wide association study of myopia progression in Chinese adolescents and application of polygenic risk score prediction.Frontiers in chemistry · 2026Article
- Bilateral congenital glaucoma in a child with Nicolaides-Baraitser syndrome: a case report.Annals of medicine and surgery (2012) · 2026Article
- Clinical and Genetic Analysis of SMARCC2-Related Diseases in Three Chinese Patients.Molecular genetics & genomic medicine · 2026Article
- Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.Nature communications · 2025Article
- Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes.Genome medicine · 2025Article
- Transposable Element-Mediated Cis-Regulation Drives the Evolution of dmrt1 as a Candidate Master Sex-Determining Gene in Black Carp.Molecular biology and evolution · 2025Article
- CUX1 variant and 9p deletion: expanding the spectrum and resolving variable GDD/ID in a family.BMC medical genomics · 2025Article
- Article
- Molecular and clinical aspects of histone-related disorders.Human genomics · 2025Review
- Elucidating neuroepigenetic mechanisms to inform targeted therapeutics for brain disorders.iScience · 2025Review
- Structural Chemistry of Helicase Inhibition.Journal of medicinal chemistry · 2025Review
- A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.Acta biochimica et biophysica Sinica · 2024Article
- SWI/SNF-RelatedJournal of pediatric genetics · 2024Article
- A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.Brain : a journal of neurology · 2024Article
- Epigenetic regulation of craniofacial development and disease.Birth defects research · 2024Review
67 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
49 authors at 20 institutions in 10 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial morphology, distal-limb anomalies and intellectual disability. We sequenced the exomes of ten individuals with NBS and identified heterozygous variants in SMARCA2 in eight of them. Extended molecular screening identified nonsynonymous SMARCA2 mutations in 36 of 44 individuals with NBS; these mutations were confirmed to be de novo when parental samples were available. SMARCA2 encodes the core catalytic unit of the SWI/SNF ATP-dependent chromatin remodeling complex that is involved in the regulation of gene transcription. The mutations cluster within sequences that encode ultra-conserved motifs in the catalytic ATPase region of the protein. These alterations likely do not impair SWI/SNF complex assembly but may be associated with disrupted ATPase activity. The identification of SMARCA2 mutations in humans provides insight into the function of the Snf2 helicase family.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.