ArticleNature communications2024
Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.
Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Article
- Advances in the etiology of congenital scoliosis: from morphology to spatiotemporal molecular mechanisms (2015-2025).EFORT open reviews · 2026Article
- Chasing the Elusive Variant: Perseverance in Hypertrophic Cardiomyopathy Genetic Diagnosis.CJC open · 2026Article
- TCOF1 affects Golgi secretory pathway contributing to the angiogenesis in renal cancer.Cell communication and signaling : CCS · 2026Article
- Addressing the diagnostic gap through deep phenotyping.Human genomics · 2026Article
- Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.International journal of molecular sciences · 2026Article
- A comprehensive review of AI innovations for tackling antimicrobial resistance.Le infezioni in medicina · 2026Review
- Identification of novel vertebral development factors through UK Biobank candidate gene search and body imaging analysis.Communications biology · 2025Article
- Vitamin A Deficiency Induces Congenital Vertebral Malformation via Retinoic Acid Signaling Mediated Sclerotome Dysplasia.Neurospine · 2025Article
- Congenital hypoplasia of the right C6 pedicle and anomalous vertebral artery entry: illustrative case.Journal of neurosurgery. Case lessons · 2025Article
- Shaping the future of care for patients with Ehlers-Danlos syndromes: from multidisciplinary management to precision medicine.Orphanet journal of rare diseases · 2025Article
- Perspectives from the 2024 International Consortium for Spinal Genetics, Development and Disease (ICSGDD).Genetics in medicine open · 2025Article
- Planar cell polarity zebrafish models of congenital scoliosis reveal underlying defects in notochord morphogenesis.Development (Cambridge, England) · 2024Article
- Core planar cell polarity genesProceedings of the National Academy of Sciences of the United States of America · 2024Article
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Authors and funding
29 authors.
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Abstract
Congenital vertebral malformation, affecting 0.13-0.50 per 1000 live births, has an immense locus heterogeneity and complex genetic architecture. In this study, we analyze exome/genome sequencing data from 873 probands with congenital vertebral malformation and 3794 control individuals. Clinical interpretation identifies Mendelian etiologies in 12.0% of the probands and reveals a muscle-related disease mechanism. Gene-based burden test of ultra-rare variants identifies risk genes with large effect sizes (ITPR2, TBX6, TPO, H6PD, and SEC24B). To further investigate the biological relevance of the genetic association signals, we perform single-nucleus RNAseq on human embryonic spines. The burden test signals are enriched in the notochord at early developmental stages and myoblast/myocytes at late stages, highlighting their critical roles in the developing spine. Our work provides insights into the developmental biology of the human spine and the pathogenesis of spine malformation.
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