ArticleHuman mutation2012
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Article in Human mutation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.
What it found
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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.
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Who cites it
61 citing papers in PubMed, 103 citations in OpenAlex.
- Effectiveness of cognitive training on Lamb-Shaffer syndrome: a case report.Dementia & neuropsychologia · 2026Article
- Sox5 controls cell cycle progression in intermediate progenitor cells during dentate gyrus development.Frontiers in cell and developmental biology · 2026Article
- Restoring Retinoic Acid: Alleviating Autism-Like Behaviors in Sox5-Deficient Mice.Neuroscience bulletin · 2025Article
- A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability.Orphanet journal of rare diseases · 2025Article
- Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience.Frontiers in pediatrics · 2025Article
- Molecular Analysis of the Differential Activity of Sox8 and Sox10 in Oligodendroglial Cells.International journal of molecular sciences · 2024Article
- The role of multidisciplinary diagnostic and therapeutic model of care in Lamb-Shaffer syndrome - case report.Journal of applied genetics · 2024Article
- Article
- Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China.Orphanet journal of rare diseases · 2024Article
- Transcriptional regulation in the development and dysfunction of neocortical projection neurons.Neural regeneration research · 2024Review
- Landscape of ConstitutionalGenes · 2024Review
- Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical patterning.Translational psychiatry · 2024Article
- Drosophila kikkawai - Sox102F.microPublication biology · 2024Article
- Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.Clinical genetics · 2023Article
- Genome-Wide Identification, Evolutionary and Mutational Analysis of the Buffalo Sox Gene Family.Animals : an open access journal from MDPI · 2023Article
- Investigation of autism-related transcription factors underlying sex differences in the effects of bisphenol A on transcriptome profiles and synaptogenesis in the offspring hippocampus.Biology of sex differences · 2023Article
- Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review.BMC medical genomics · 2023Review
- Two Different Copy Number Variations of the SOX5 and SOX8 Genes in Yak and Their Association with Growth Traits.Animals : an open access journal from MDPI · 2022Article
- New resources for the Drosophila 4th chromosome: FRT101F enabled mitotic clones and Bloom syndrome helicase enabled meiotic recombination.G3 (Bethesda, Md.) · 2022Article
- Review
1 more citing papers are in PubMed but not listed here.
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Authors and funding
43 authors at 20 institutions in 3 countries.
Funding
Abstract
SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. Despite its important developmental roles, SOX5 disruption has yet to be associated with human disease. We report one individual with a reciprocal translocation breakpoint within SOX5, eight individuals with intragenic SOX5 deletions (four are apparently de novo and one inherited from an affected parent), and seven individuals with larger 12p12 deletions encompassing SOX5. Common features in these subjects include prominent speech delay, intellectual disability, behavior abnormalities, and dysmorphic features. The phenotypic impact of the deletions may depend on the location of the deletion and, consequently, which of the three major SOX5 protein isoforms are affected. One intragenic deletion, involving only untranslated exons, was present in a more mildly affected subject, was inherited from a healthy parent and grandparent, and is similar to a deletion found in a control cohort. Therefore, some intragenic SOX5 deletions may have minimal phenotypic effect. Based on the location of the deletions in the subjects compared to the controls, the de novo nature of most of these deletions, and the phenotypic similarities among cases, SOX5 appears to be a dosage-sensitive, developmentally important gene.
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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.