ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- BCL11B-related disease: a single phenotypic entity?European journal of human genetics : EJHG · 2025Pooled it
- Clinical and Molecular Characterization of Five Additional Individuals With SATB2-Associated Syndrome in Guangxi.Biochemical genetics · 2026Article
- Hereditary spastic paraplegia in three siblings with distinct genetic mutations.The Journal of international medical research · 2026Article
- The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.European journal of human genetics : EJHG · 2026Article
- 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
- A subpopulation of cortical neurons altered by mutations in the autism risk gene DDX3X.Biology open · 2025Article
- Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.Frontiers in genetics · 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
- SATB2 organizes the 3D genome architecture of cognition in cortical neurons.Molecular cell · 2024Article
- Genetic analysis of a child withExperimental and therapeutic medicine · 2023Article
- Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.Human molecular genetics · 2023Review
- 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
- The behavioural phenotype of SATB2-associated syndrome: a within-group and cross-syndrome analysis.Journal of neurodevelopmental disorders · 2022Article
- Chromatin Reorganization during Myoblast Differentiation Involves the Caspase-Dependent Removal of SATB2.Cells · 2022Article
- Genotype-Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results.Journal of clinical medicine · 2021Review
- Speech-language profiles in the context of cognitive and adaptive functioning in SATB2-associated syndrome.Genes, brain, and behavior · 2021Article
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Authors and funding
34 authors at 17 institutions in 3 countries.
Funding
Abstract
purposeTo characterize features associated with de novo mutations affecting SATB2 function in individuals ascertained on the basis of intellectual disability.
methodsTwenty previously unreported individuals with 19 different SATB2 mutations (11 loss-of-function and 8 missense variants) were studied. Fibroblasts were used to measure mutant protein production. Subcellular localization and mobility of wild-type and mutant SATB2 were assessed using fluorescently tagged protein.
resultsRecurrent clinical features included neurodevelopmental impairment (19/19), absent/near absent speech (16/19), normal somatic growth (17/19), cleft palate (9/19), drooling (12/19), and dental anomalies (8/19). Six of eight missense variants clustered in the first CUT domain. Sibling recurrence due to gonadal mosaicism was seen in one family. A nonsense mutation in the last exon resulted in production of a truncated protein retaining all three DNA-binding domains. SATB2 nuclear mobility was mutation-dependent; p.Arg389Cys in CUT1 increased mobility and both p.Gly515Ser in CUT2 and p.Gln566Lys between CUT2 and HOX reduced mobility. The clinical features in individuals with missense variants were indistinguishable from those with loss of function.
conclusionSATB2 haploinsufficiency is a common cause of syndromic intellectual disability. When mutant SATB2 protein is produced, the protein appears functionally inactive with a disrupted pattern of chromatin or matrix association.Genet Med advance online publication 02 February 2017.
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