Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome

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SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin μ gene expressionPreprint

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Satb2 Haploinsufficiency Phenocopies 2q32-q33 Deletions, whereas Loss Suggests a Fundamental Role in the Coordination of Jaw Development

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SATB2 interacts with chromatin‐remodeling molecules in differentiating cortical neurons

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Heterozygous nonsense mutationSATB2 associated with cleft palate, osteoporosis, and cognitive defects

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SATB2‐associated syndrome: Mechanisms, phenotype, and practical recommendations

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Further delineation of the SATB2 phenotype

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Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis

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Satb2 determines miRNA expression and long-term memory in the adult central nervous system

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Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence

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De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia

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Clinical and molecular consequences of disease-associated de novo mutations in SATB2

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Further supporting evidence for the SATB2‐associated syndrome found through whole exome sequencing

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Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.

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Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism

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Genotype and phenotype in 12 additional individuals with SATB2 ‐associated syndrome

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SATB2‐associated syndrome presenting with Rett‐like phenotypes

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Toriello–Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2

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Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final‐exon SATB2 frameshift mutation

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A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay

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Identifying facial phenotypes of genetic disorders using deep learning

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Artificial intelligence (AI) in rare diseases: is the future brighter?

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Protein ensembles link genotype to phenotype

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Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan

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Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

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Mutation update for the SATB2 gene

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Loss of Satb2 in the Cortex and Hippocampus Leads to Abnormal Behaviors in Mice

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Genome sequencing in persistently unsolved white matter disorders

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The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

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Studying Down syndrome recognition probabilities in Thai children with de‐identified computer‐aided facial analysis

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Whole genome sequencing of 45 Japanese patients with intellectual disability

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SATB2‐LEMD2 interaction links nuclear shape plasticity to regulation of cognition‐related genes

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Satb2 regulates proliferation and nuclear integrity of pre-osteoblasts

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SATB2 organizes the 3D genome architecture of cognition in cortical neurons

Wahl, N., Espeso-Gil, S., Chietera, P., Nagel, A., Laighneach, A., Morris, D., Rajarajan, P., Akbarian, S., Dechant, G., & Apostolova, G. (2024) · Molecules and Cells · doi:10.1016/j.molcel.2023.12.024 · Cited by 16 · see citing works

Genes encoding SATB2-interacting proteins in adult cerebral cortex contribute to human cognitive ability

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New genes involved in Angelman syndrome-like: Expanding the genetic spectrum

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Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2

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Patients with SATB2‐associated syndrome exhibiting multiple odontomas

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Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

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Using facial analysis technology in a typical genetic clinic: experience from 30 individuals from a single institution

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SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients

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The behavioural phenotype of SATB2-associated syndrome: a within-group and cross-syndrome analysis

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Speech, language, and feeding phenotypes of SATB2 ‐associated syndrome

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A novel mutation of SATB2 inhibits odontogenesis of human dental pulp stem cells through Wnt/β-catenin signaling pathway

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Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome

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VPI Management in SATB2 Syndrome: Use of MRI to Evaluate Anatomy and Physiology in Non-Cleft VPI

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SATB2‐associated syndrome in patients from Japan: Linguistic profiles

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Spatiotemporal MicroRNA-Gene Expression Network Related to Orofacial Clefts

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SATB2 ‐associated syndrome in adolescents and adults

Zárate, Y. A., Bosanko, K. A., & Caffrey, A. R. (2021) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62258 · Cited by 13 · see citing works

Gene regulatory landscape dissected by single-cell four-omics sequencing

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Dental radiographic findings in 18 individuals with SATB2-associated syndrome

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Behavioral phenotype and sleep problems in SATB 2 ‐associated syndrome

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Speech‐language profiles in the context of cognitive and adaptive functioning in SATB2 ‐associated syndrome

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Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community

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The dental phenotype of primary dentition in SATB2-associated syndrome: a report of three cases and literature review

Li, X., Ye, X., & Su, J. (2022) · BMC Oral Health · doi:10.1186/s12903-022-02594-4 · Cited by 10 · see citing works

The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers

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The homeodomain transcriptional regulator DVE-1 directs a program for synapse elimination during circuit remodeling

Alexander, K. D., Ramachandran, S., Biswas, K., Lambert, C. M., Russell, J., Oliver, D. B., Armstrong, W., Rettler, M., Liu, S., Doitsidou, M., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-43281-4 · Cited by 9 · see citing works

Growth in individuals with SATB2‐associated syndrome

Zárate, Y. A., Kannan, A., Bosanko, K. A., & Caffrey, A. R. (2022) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62896 · Cited by 9 · see citing works

Paternal Low-Level Mosaicism-Caused SATB2-Associated Syndrome

Qian, Y., Liu, J., Yang, Y., Chen, M., Jin, C., Chen, P., Lei, Y., Pan, H.-Y., & Dong, M. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00630 · Cited by 8 · see citing works

Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations

Zárate, Y. A., Örsell, J.-L., Bosanko, K. A., Srikanth, S., Cascio, L., Pauly, R., & Boccuto, L. (2021) · Metabolic Brain Disease · doi:10.1007/s11011-021-00706-7 · Cited by 7 · see citing works

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings

Danyel, M., Cheng, Z., Jung, C. J., Boschann, F., Pantel, J. T., Hajjir, N., Flöttmann, R., Schulz, S., Demuth, I., Sheridan, E. G., et al. (2019) · European Journal of Human Genetics · doi:10.1038/s41431-019-0469-3 · Cited by 7 · see citing works

Abnormalities in pharyngeal arch‐derived structures in SATB2‐associated syndrome

Zárate, Y. A., Bosanko, K. A., Derar, N., & Fish, J. L. (2024) · Clinical Genetics · doi:10.1111/cge.14540 · Cited by 6 · see citing works

Progress of epigenetic modification of SATB2 gene in the pathogenesis of non-syndromic cleft lip and palate

Ma, Y., Liu, H., & Shi, L. (2023) · Asian Journal of Surgery · doi:10.1016/j.asjsur.2023.09.113 · Cited by 5 · see citing works

Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2 ‐associated syndrome

Kurosaka, H., Yamamoto, S., Hirasawa, K., Yanagishita, T., Fujioka, K., Yagasaki, H., Nagata, M., Ishihara, Y., Yonei, A., Asano, Y., et al. (2023) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63225 · Cited by 5 · see citing works

Transcriptional regulation in the development and dysfunction of neocortical projection neurons

Wang, N., Wan, R., & Tang, K. (2023) · Neural Regeneration Research · doi:10.4103/1673-5374.379039 · Cited by 5 · see citing works

Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome

Zárate, Y. A., Bosanko, K. A., Kannan, A., Thomason, A., Nutt, B., Kumar, N., Simmons, K. E., Hiegert, A., Hartzell, L. D., Johnson, A. B., et al. (2023) · Human Mutation · doi:10.1155/2023/8200176 · Cited by 4 · see citing works

The skeletal abnormalities and their clinical challenges in SATB2-associated syndrome

Kuo, B., Bolster, M. B., & Fan, W. (2025) · JBMR Plus · doi:10.1093/jbmrpl/ziaf023 · Cited by 3 · see citing works

The Utility of Face2Gene App for Syndrome Recognition in Indian Children with Dysmorphism

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Behaviours that Challenge in SATB2-associated Syndrome: Correlates of Self-injury, Aggression and Property Destruction

Shelley, L., Waite, J., Tarver, J., Oliver, C., Crawford, H., Richards, C., & Bissell, S. (2023) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-023-06123-2 · Cited by 3 · see citing works

Oral phenotype in SATB2-associated syndrome: cross-sectional study of the French cohort

Végas, N., Rio, M., Adnot, P., Soupre, V., Petit, F., Ghoumid, J., Toutain, A., Dieterich, K. D., Marey, I., Gilbert‐Dussardier, B., et al. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03609-3 · Cited by 3 · see citing works

SATB2-associated syndrome caused by a novel SATB2 mutation in a Chinese boy: A case report and literature review

Zhu, Y.-Y., Sun, G., & Yang, Z. (2021) · World Journal of Clinical Cases · doi:10.12998/wjcc.v9.i21.6081 · Cited by 3 · see citing works

Genetic analysis of a child with SATB2‑associated syndrome and literature study

Liu, Q., Feng, N.-N., & Chen, L. (2023) · Experimental and Therapeutic Medicine · doi:10.3892/etm.2023.12071 · Cited by 3 · see citing works

Facial recognition models for identifying genetic syndromes associated with pulmonary stenosis in children

Shen, J., Chen, Q.-C., Huang, Y., Wu, K., Yang, L., & Wang, S. (2024) · Postgraduate Medical Journal · doi:10.1093/postmj/qgae095 · Cited by 3 · see citing works

Novel finding of lissencephaly and severe osteopenia in a Chinese patient with SATB2 ‐associated syndrome and a brief review of literature

Lo, H., Ng, W., Fong, N.-C., Lui, C., & Lam, C. (2022) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62732 · Cited by 3 · see citing works

Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes

den Hoed, J., Hashimoto, H., Khan, M., Semmekrot, F., Bosanko, K. A., Abe‐Hatano, C., Nakagawa, E., Venselaar, H., Quercia, N. L., Chad, L., et al. (2024) · Journal of Medical Genetics · doi:10.1136/jmg-2024-110015 · Cited by 2 · see citing works

SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation

Grelet, M., Mortreux, J., Alazard, E., Sigaudy, S., Philip, N., & Missirian, C. (2019) · Clinical Dysmorphology · doi:10.1097/mcd.0000000000000293 · Cited by 2 · see citing works

SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review

Copelli, M. D. M., Pairet, E., Tacla, M. A., Vieira, T. P., Appenzeller, S., Helaers, R., Vikkula, M., & Gil‐da‐Silva‐Lopes, V. L. (2023) · Genes · doi:10.3390/genes14040882 · Cited by 2 · see citing works

Delayed autism spectrum disorder diagnosis in a child with SATB2-associated syndrome: a brief report

Yetman, M. M., Blancher, A. T., & McGill, M. (2025) · International Journal of Developmental Disabilities · doi:10.1080/20473869.2025.2462916 · Cited by 1 · see citing works

Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With SATB2 ‐Associated Syndrome

Ukita, N., Ogawa, T., Yamada, M., Takeuchi, C., Kosaki, K., & Moriyama, K. (2025) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.64005 · Cited by 1 · see citing works

Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity

den Hoed, J., Semmekrot, F., Verseput, J. J. A., Dingemans, A. J. M., Schijven, D., Francks, C., Zárate, Y. A., & Fisher, S. E. (2025) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2025.100537 · Cited by 1 · see citing works

Investigation of the genetic basis of schizophrenia and cognitive function

Whitton, L. (2019) · Arrow@dit (Dublin Institute of Technology) · doi:10.13025/15888

Case Report: SATB2-Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases

Zárate, Y. A., Vernon, H. J., Bosanko, K. A., Ramani, P. K., Gökden, M., Writzl, K., Meznarič, M., Vesnaver, T. V., Ramakrishnaiah, R. H., & Osredkar, D. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.692087

SATB2-associated syndrome: a case report

Issad, M., Ahossi, V., Melli, E., & Hoarau, D. (2024) · Journal of Oral Medicine and Oral Surgery · doi:10.1051/mbcb/2024003

Exploring the health, education and social support needs of individuals diagnosed with SATB2 Associated Syndrome and their families living in Australia

Abouharb, M., Baumgartner, D. D., Wilkes‐Gillan, S., Parsons, D. N., Parsons, L., Strnadová, I., Palmer, E. E., Chen, R., & Munro, N. (2025) · Rare · doi:10.1016/j.rare.2025.100094

Influence of Polymorphisms in Gene SATB2 on Antipsychotics Response in Chinese Han Population

Du, X., Wang, Y., Zhang, Q., Gao, Y., Wang, X., Zhao, W.-T., Hu, X., Zhang, Y., Xu, Y., Chen, B., et al. (2025) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s511374

Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome

Pullano, V., Rondot, F., Carelli, I., Trajkova, S., Carestiato, S., Cardaropoli, S., Carli, D., Biamino, E., Sirchia, F., Reynolds, G., et al. (2025) · Genes · doi:10.3390/genes16101229

Progressive maxillofacial osteo-condensation revealing a de NOVO mutation of the SATB2 gene in a young woman

Jules, B. P. I., & Ferri, J. (2025) · Advances in Oral and Maxillofacial Surgery · doi:10.1016/j.adoms.2025.100596

Clinical and Molecular Characterization of Five Additional Individuals With SATB2-Associated Syndrome in Guangxi

Yi, S., Zhang, Q., Chen, F., Zhou, X., Zhang, Q., Yi, S., Zhang, X., Qian, J., Wang, L., Zhang, S., et al. (2026) · Biochemical Genetics · doi:10.1007/s10528-026-11323-3

Understanding Aggression in SATB2 ‐Associated Syndrome: A Mixed‐Methods Study Exploring Caregiver Perspectives

Shelley, L., Pearson, E., Tarver, J., & Waite, J. (2026) · Journal of Applied Research in Intellectual Disabilities · doi:10.1111/jar.70247

A personalized genomic-medicine approach to rare genomic disorders associated with simple chromosomal structural variants

David, D., Fino, J., Rodrigues, M., Nunes, S. S., Rui, G., Freixo, J. P., Moldovan, O., Carvalho, I. S., Teles, N. O., Soares, A. R., et al. (2026) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2026.100649

Neuronal activity-driven 3D chromatin dynamics in cortical pyramidal neurons depend on SATB2

Wahl, N., Ali, M., Espeso‐Gil, S., Dechant, G., & Apostolova, G. (2026) · Nucleic Acids Research · doi:10.1093/nar/gkag788

SATB2-Associated Syndrome

Zárate, Y. A., Kaylor, J. A., & Fish, J. L. (2017) · Europe PMC (PubMed Central) · Cited by 8 · see citing works

Genotype and phenotype in 12 additional individuals with SATB2 ‐associated syndrome

Zárate, Y. A., Kalsner, L., Basinger, A., Jones, J. R., Li, C. C., Szybowska, M., Xu, Z., Vergano, S. A. S., Caffrey, A. R., González, C., et al. (2017) · Clinical Genetics · doi:10.1111/cge.12982 · Cited by 43 · see citing works

P369: SATB2-associated syndrome severity score: Genotype/phenotype correlations and the SATB2 portal

Zárate, Y. A., Bosanko, K. A., Kannan, A., Thomason, A., Nutt, B., Kumar, N., Simmons, K., Hiegert, A., Hartzell, L. D., Johnson, A. J., et al. (2023) · Genetics in Medicine Open · doi:10.1016/j.gimo.2023.100397

SATB2‐associated syndrome: Mechanisms, phenotype, and practical recommendations

Zárate, Y. A., & Fish, J. L. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38022 · Cited by 112 · see citing works

SATB2-associated syndrome caused by a novel SATB2 mutation in a Chinese boy: A case report and literature review

Zhu, Y.-Y., Sun, G., & Yang, Z. (2021) · World Journal of Clinical Cases · doi:10.12998/wjcc.v9.i21.6081 · Cited by 3 · see citing works