ArticleJournal of medical genetics2016
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.
Article in Journal of medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 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
51 citing papers in PubMed, 85 citations in OpenAlex.
- Arrayed single-gene perturbations identify drivers of human anterior neural tube closure.eLife · 2026Article
- Sox11 deficiency induces paravertebral muscle injury and scoliosis via Mlxipl upregulation.Genes & diseases · 2026Article
- [A case of Berry syndrome associated withZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- Olfactory dysfunction and submicroscopic abnormalities: unveiling hidden pathologies.Frontiers in molecular neuroscience · 2026Review
- A Coffin-Siris syndrome-associated mutation modeled in Caenorhabditis elegans affects multiple developmental processes.G3 (Bethesda, Md.) · 2025Article
- Unilateral loss of recql4 function in Xenopus laevis tadpoles leads to ipsilateral ablation of the forelimb, hypoplastic Meckel's cartilage, and vascular defects.G3 (Bethesda, Md.) · 2025Article
- Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders.The Journal of clinical endocrinology and metabolism · 2025Article
- Case Report: Observation of early-onset high myopia with fundus tessellation changes in Coffin-Siris syndrome 9 (CSS9) and literature review.Frontiers in pediatrics · 2025Article
- SEM-2/SoxC regulates multiple aspects of C. elegans postembryonic mesoderm development.PLoS genetics · 2025Article
- Novel variants in the SOX11 gene: clinical description of seven new patients.European journal of human genetics : EJHG · 2024Article
- A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature.BMC medical genomics · 2024Article
- SEM-2/SoxC regulates multiple aspects ofbioRxiv : the preprint server for biology · 2024Article
- Landscape of ConstitutionalGenes · 2024Review
- Functional Insight into and Refinement of the Genomic Boundaries of theInternational journal of molecular sciences · 2023Article
- Genetic and genomic analyses of Drosophila melanogaster models of chromatin modification disorders.Genetics · 2023Article
- Review
- Two SOX11 variants cause Coffin-Siris syndrome with a new feature of sensorineural hearing loss.American journal of medical genetics. Part A · 2023Article
- Transcription factors in microcephaly.Frontiers in neuroscience · 2023Review
- Neurodevelopmental disorder with dystonia due to SOX6 mutations.Molecular genetics & genomic medicine · 2022Article
- Episignature Mapping ofInternational journal of molecular sciences · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 16 institutions in 6 countries.
Funding
Abstract
backgroundSOX11 is a transcription factor proposed to play a role in brain development. The relevance of SOX11 to human developmental disorders was suggested by a recent report of SOX11 mutations in two patients with Coffin-Siris syndrome. Here we further investigate the role of SOX11 variants in neurodevelopmental disorders.
methodsWe used array based comparative genomic hybridisation and trio exome sequencing to identify children with intellectual disability who have deletions or de novo point mutations disrupting SOX11. The pathogenicity of the SOX11 mutations was assessed using an in vitro gene expression reporter system. Loss-of-function experiments were performed in xenopus by knockdown of Sox11 expression.
resultsWe identified seven individuals with chromosome 2p25 deletions involving SOX11. Trio exome sequencing identified three de novo SOX11 variants, two missense (p.K50N; p.P120H) and one nonsense (p.C29*). The biological consequences of the missense mutations were assessed using an in vitro gene expression system. These individuals had microcephaly, developmental delay and shared dysmorphic features compatible with mild Coffin-Siris syndrome. To further investigate the function of SOX11, we knocked down the orthologous gene in xenopus. Morphants had significant reduction in head size compared with controls. This suggests that SOX11 loss of function can be associated with microcephaly.
conclusionsWe thus propose that SOX11 deletion or mutation can present with a Coffin-Siris phenotype.
Indexed as
Identifiers
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.