ArticleProceedings of the National Academy of Sciences of the United States of America2015
Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 62 citations in OpenAlex.
- Oxysterol undersulfation promotes osteoarthritis by fueling chondrocyte lipid accumulation.Nature communications · 2026Article
- Slc26a2-mediated sulfate metabolism is important in tooth development.Disease models & mechanisms · 2024Article
- Genetic and phenotypic analysis of 225 Chinese children with developmental delay and/or intellectual disability using whole-exome sequencing.BMC genomics · 2024Article
- Targeting FGFR3 signaling and drug repurposing for the treatment of SLC26A2-related chondrodysplasia in mouse model.Journal of orthopaedic translation · 2024Article
- SLC26 Anion Transporters.Handbook of experimental pharmacology · 2024Review
- Radiological Characteristics of Low-Grade Lytic Spondylolisthesis: Similarity to Dysplastic Spondylolisthesis.Asian spine journal · 2023Article
- A Review of Treatment for Acute and Chronic Pars Fractures in the Lumbar Spine.Current reviews in musculoskeletal medicine · 2022Review
- Association of spinal anomalies with spondylolysis and spina bifida occulta.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2022Article
- Integrated RNA-Seq Analysis Uncovers the Potential Mechanism of the "Kidney Governing Bones" Theory of TCM.Evidence-based complementary and alternative medicine : eCAM · 2022Article
- Radiological Changes of Paraspinal Muscles: A Comparative Study of Patients with Isthmic Spondylolisthesis, Patients with Degenerative Lumbar Spondylolisthesis, and Healthy Subjects.Journal of pain research · 2022Article
- Familial development of lumbar spondylolysis: a familial case report of 7- and 4-year-old brothers and their father.The Journal of international medical research · 2021Article
- Spontaneous Laminar Fracture during Successful Conservative Treatment of Lumbar Spondylolysis at the Adjacent Spinal Level: A Case Report.NMC case report journal · 2020Article
- Progress of orthopaedic research in China over the last decade.Journal of orthopaedic translation · 2020Article
- Novel Human Polymorphisms Define a Key Role for the SLC26A6-STAS Domain in Protection From CaFrontiers in pharmacology · 2020Article
- Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias.EBioMedicine · 2019Article
- Brave to Advance the Theoretical and Technological Innovation on the Basis of Orthopedic Practice.Chinese medical journal · 2018Article
- SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.Nature communications · 2018Article
- Sexual Dimorphism and the Origins of Human Spinal Health.Endocrine reviews · 2018Review
- History of orthopaedics in China: a brief review.International orthopaedics · 2018Review
- Lumbar degenerative spondylolisthesis epidemiology: A systematic review with a focus on gender-specific and age-specific prevalence.Journal of orthopaedic translation · 2017Review
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spondylolysis is a fracture in part of the vertebra with a reported prevalence of about 3-6% in the general population. Genetic etiology of this disorder remains unknown. The present study was aimed at identifying genomic mutations in patients with dysplastic spondylolysis as well as the potential pathogenesis of the abnormalities. Whole-exome sequencing and functional analysis were performed for patients with spondylolysis. We identified a novel heterozygous mutation (c.2286A > T; p.D673V) in the sulfate transporter gene SLC26A2 in five affected subjects of a Chinese family. Two additional mutations (e.g., c.1922A > G; p.H641R and g.18654T > C in the intron 1) in the gene were identified by screening a cohort of 30 unrelated patients with the disease. In situ hybridization analysis showed that SLC26A2 is abundantly expressed in the lumbosacral spine of the mouse embryo at day 14.5. Sulfate uptake activities in CHO cells transfected with mutant SLC26A2 were dramatically reduced compared with the wild type, confirming the pathogenicity of the two missense mutations. Further analysis of the gene-disease network revealed a convergent pathogenic network for the development of lumbosacral spine. To our knowledge, our findings provide the first identification of autosomal dominant SLC26A2 mutations in patients with dysplastic spondylolysis, suggesting a new clinical entity in the pathogenesis of chondrodysplasia involving lumbosacral spine. The analysis of the gene-disease network may shed new light on the study of patients with dysplastic spondylolysis and spondylolisthesis as well as high-risk individuals who are asymptomatic.
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