ArticlePloS one2009
Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.
Article in PloS one, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers, 1 of them a synthesis that pooled it.
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Who cites it
63 citing papers in PubMed, 1 synthesis or guideline pooled it, 174 citations in OpenAlex.
- Tooth agenesis and orofacial clefting: genetic brothers in arms?Human genetics · 2016Pooled it
- Article
- Expanding Clinical and Genetic Landscape ofGenes · 2025Article
- Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort.Orphanet journal of rare diseases · 2025Article
- Region-specific gene expression profiling of early mouse mandible uncovered SATB2 as a key molecule for teeth patterning.Scientific reports · 2024Article
- Article
- Stereo-electroencephalographic seizure localization in patients with mesial temporal sclerosis: A single center experience.Clinical neurophysiology practice · 2024Article
- Genetic analysis of a child withExperimental and therapeutic medicine · 2023Article
- Review
- MicroRNAs-mediated regulation pathways in rheumatic diseases.Inflammopharmacology · 2023Review
- CUT homeobox genes: transcriptional regulation of neuronal specification and beyond.Frontiers in cellular neuroscience · 2023Review
- SATB2 and MDM2 Immunoexpression and Diagnostic Role in Primary Osteosarcomas of the Jaw.Dentistry journal · 2021Article
- Genomic Aberrations Associated with the Pathophysiological Mechanisms of Neurodevelopmental Disorders.Cells · 2021Review
- Role of Satb1 and Satb2 Transcription Factors in the Glutamate Receptors Expression and CaInternational journal of molecular sciences · 2021Article
- Wrong place, wrong time: Runt-related transcription factor 2/SATB2 pathway in bone development and carcinogenesis.Journal of carcinogenesis · 2021Review
- The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.Molecular genetics & genomic medicine · 2020Article
- Satb2 is required for the regionalization of retrosplenial cortex.Cell death and differentiation · 2020Article
- Prenatal Alcohol Exposure Results in Sex-Specific Alterations in Circular RNA Expression in the Developing Mouse Brain.Frontiers in neuroscience · 2020Article
- Mutation update for the SATB2 gene.Human mutation · 2019Review
- Studying the effects of haplotype partitioning methods on the RA-associated genomic results from the North American Rheumatoid Arthritis Consortium (NARAC) dataset.Journal of advanced research · 2019Article
3 more citing papers are in PubMed but not listed here.
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Authors and funding
8 authors at 4 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Recurrent deletions of 2q32q33 have recently been reported as a new microdeletion syndrome. Clinical features of this syndrome include severe mental retardation, growth retardation, dysmorphic features, thin and sparse hair, feeding difficulties and cleft or high palate. The commonly deleted region contains at least seven genes. Haploinsufficiency of one of these genes, SATB2, a DNA-binding protein that regulates gene expression, has been implicated as causative in the cleft or high palate of individuals with 2q32q33 microdeletion syndrome. In this study we describe three individuals with smaller microdeletions of this region, within 2q33.1. The deletions ranged in size from 173.1 kb to 185.2 kb and spanned part of SATB2. Review of clinical records showed similar clinical features among these individuals, including severe developmental delay and tooth abnormalities. Two of the individuals had behavioral problems. Only one of the subjects presented here had a cleft palate, suggesting reduced penetrance for this feature. Our results suggest that deletion of SATB2 is responsible for several of the clinical features associated with 2q32q33 microdeletion syndrome.
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