ReviewHuman mutation2019
Mutation update for the SATB2 gene.
Review in Human mutation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
32 citing papers in PubMed, 42 citations in OpenAlex.
- Clinical and Molecular Characterization of Five Additional Individuals With SATB2-Associated Syndrome in Guangxi.Biochemical genetics · 2026Article
- Article
- Hippocampal Satb2 regulates the cognitive function of adult mice through pleiotrophin.Cell death & disease · 2026Article
- Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 818 trios.American journal of human genetics · 2025Article
- Expanding Clinical and Genetic Landscape ofGenes · 2025Article
- Advances in research on SATB2 and its role in tumor development.Cell & bioscience · 2025Review
- Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort.Orphanet journal of rare diseases · 2025Article
- Behaviours that Challenge in SATB2-associated Syndrome: Correlates of Self-injury, Aggression and Property Destruction.Journal of autism and developmental disorders · 2024Article
- Abnormalities in pharyngeal arch-derived structures in SATB2-associated syndrome.Clinical genetics · 2024Article
- Microcephaly GeneInternational journal of molecular sciences · 2024Article
- Epigenetic regulation of craniofacial development and disease.Birth defects research · 2024Review
- Review
- Quantitative Phenotype Morbidity Description ofHuman mutation · 2023Article
- The dental phenotype of primary dentition in SATB2-associated syndrome: a report of three cases and literature review.BMC oral health · 2022Review
- Regional specific differentiation of integumentary organs: SATB2 is involved in α- and β-keratin gene cluster switching in the chicken.Developmental dynamics : an official publication of the American Association of Anatomists · 2022Article
- The behavioural phenotype of SATB2-associated syndrome: a within-group and cross-syndrome analysis.Journal of neurodevelopmental disorders · 2022Article
- SATB2: A versatile transcriptional regulator of craniofacial and skeleton development, neurogenesis and tumorigenesis, and its applications in regenerative medicine.Genes & diseases · 2022Review
- Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.Genes · 2021Article
- A novel mutation of SATB2 inhibits odontogenesis of human dental pulp stem cells through Wnt/β-catenin signaling pathway.Stem cell research & therapy · 2021Article
- Speech-language profiles in the context of cognitive and adaptive functioning in SATB2-associated syndrome.Genes, brain, and behavior · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
48 authors at 20 institutions in 9 countries.
Funding
Abstract
SATB2-associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a review of published pathogenic variants in the SATB2 gene to date and report 38 novel alterations found in 57 additional previously unreported individuals. Overall, we present a compilation of 120 unique variants identified in 155 unrelated families ranging from single nucleotide coding variants to genomic rearrangements distributed throughout the entire coding region of SATB2. Single nucleotide variants predicted to result in the occurrence of a premature stop codon were the most commonly seen (51/120 = 42.5%) followed by missense variants (31/120 = 25.8%). We review the rather limited functional characterization of pathogenic variants and discuss current understanding of the consequences of the different molecular alterations. We present an expansive phenotypic review along with novel genotype-phenotype correlations. Lastly, we discuss current knowledge of animal models and present future prospects. This review should help provide better guidance for the care of individuals diagnosed with SAS.
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What OpenQuestion holds
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.