ArticleOrphanet journal of rare diseases2022
SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Genetic Landscape of Robin Sequence: A Systematic Review.Clinical genetics · 2026Pooled it
- Clinical and Molecular Characterization of Five Additional Individuals With SATB2-Associated Syndrome in Guangxi.Biochemical genetics · 2026Article
- 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
- The skeletal abnormalities and their clinical challenges inJBMR plus · 2025Article
- The importance of marginal sclerosis in the recovery of mechanical strength after curettage of bone lesions.American journal of translational research · 2025Article
- Region-specific gene expression profiling of early mouse mandible uncovered SATB2 as a key molecule for teeth patterning.Scientific reports · 2024Article
- Cell signaling and transcriptional regulation of osteoblast lineage commitment, differentiation, bone formation, and homeostasis.Cell discovery · 2024Review
- Genetic analysis of a child withExperimental and therapeutic medicine · 2023Article
- Review
- Quantitative Phenotype Morbidity Description ofHuman mutation · 2023Article
- Incidence of fractures in people with intellectual disabilities over the life course: a retrospective matched cohort study.EClinicalMedicine · 2022Article
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Authors and funding
19 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIndividuals with pathogenic variants in SATB2 display intellectual disability, speech and behavioral disorders, dental abnormalities and often features of Pierre Robin sequence. SATB2 encodes a transcription factor thought to play a role in bone remodeling. The primary aim of our study was to systematically review the skeletal manifestations of SATB2-associated syndrome. For this purpose, we performed a non-interventional, multicenter cohort study, from 2017 to 2018. We included 19 patients, 9 females and 10 males ranging in age from 2 to 19 years-old. The following data were collected prospectively for each patient: clinical data, bone markers and calcium and phosphate metabolism parameters, skeletal X-rays and bone mineral density.
resultsDigitiform impressions were present in 8/14 patients (57%). Vertebral compression fractures affected 6/17 patients (35%). Skeletal demineralization (16/17, 94%) and cortical thinning of vertebrae (15/17) were the most frequent radiological features at the spine. Long bones were generally demineralized (18/19). The distal phalanges were short, thick and abnormally shaped. C-telopeptide (CTX) and Alkaline phosphatase levels were in the upper normal values and osteocalcin and serum procollagen type 1 amino-terminal propeptide (P1NP) were both increased. Vitamin D insufficiency was frequent (66.7%).
conclusionWe conclude that SATB2 pathogenic variants are responsible for skeletal demineralization and osteoporosis. We found increased levels of bone formation markers, supporting the key role of SATB2 in osteoblast differentiation. These results support the need for bone evaluation in children and adult patients with SATB2-associated syndrome (SAS).
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