ArticleJournal of medical genetics2003
Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.
Article in Journal of medical genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 137 citations in OpenAlex.
- Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review.Journal of human genetics · 2024Pooled it
- The role of genetics and molecular mechanisms in early onset scoliosis.Journal of clinical orthopaedics and trauma · 2026Review
- A Splice Acceptor Variant inGenes · 2026Article
- Expression of DLL3 and SEZ6 in the Spectrum of Neuroendocrine Neoplasia.Endocrine pathology · 2025Article
- Novel Splice Variant in theDiagnostics (Basel, Switzerland) · 2025Article
- Deciphering the etiology of congenital scoliosis: A genetic and epigenetic perspective.World journal of orthopedics · 2025Review
- Reviewing the Genetic and Molecular Foundations of Congenital Spinal Deformities: Implications for Classification and Diagnosis.Journal of clinical medicine · 2025Review
- Cellular and molecular control of vertebrate somitogenesis.Nature reviews. Molecular cell biology · 2024Review
- Spatiotemporal control of pattern formation during somitogenesis.Science advances · 2024Review
- A spatiotemporal Notch interaction map from plasma membrane to nucleus.Science signaling · 2023Article
- Identification of a Novel Nonsense Variant in theMolecular syndromology · 2023Article
- Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis.Frontiers in pediatrics · 2023Article
- Functional Characterization of NovelHuman mutation · 2023Article
- Lfng and Dll3 cooperate to modulate protein interactions in cis and coordinate oscillatory Notch pathway activation in the segmentation clock.Developmental biology · 2022Article
- Clinical genetics of spondylocostal dysostosis: A mini review.Frontiers in genetics · 2022Review
- Elevated DLL3 in stomach cancer by tumor-associated macrophages enhances cancer-cell proliferation and cytokine secretion of macrophages.Gastroenterology report · 2022Article
- Review
- Altered Cogs of the Clock: Insights into the Embryonic Etiology of Spondylocostal Dysostosis.Journal of developmental biology · 2021Review
- Article
- Role of somite patterning in the formation of Weberian apparatus and pleural rib in zebrafish.Journal of anatomy · 2020Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The spondylocostal dysostoses (SCD) are a group of disorders characterised by multiple vertebral segmentation defects and rib anomalies. SCD can either be sporadic or familial, and can be inherited in either autosomal dominant or recessive modes. We have previously shown that recessive forms of SCD can be caused by mutations in the delta-like 3 gene, DLL3. Here, we have sequenced DLL3 in a series of SCD cases and identified 12 mutations in a further 10 families. These include 10 novel mutations in exons 4-8, comprising nonsense, missense, frameshift, splicing, and in frame insertion mutations that are predicted to result in either the truncation of the mature protein in the extracellular domain, or affect highly conserved amino acid residues in the epidermal growth factor-like repeats of the protein. The affected cases represent diverse ethnic backgrounds and six come from traditionally consanguineous communities. In all affected subjects, the radiological phenotype is abnormal segmentation throughout the entire vertebral column with smooth outlines to the vertebral bodies in childhood, for which we suggest the term "pebble beach sign". This is a very consistent phenotype-genotype correlation and we suggest the designation SCD type 1 for the AR form caused by mutations in the DLL3 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.