ArticleAmerican journal of human genetics2004
Mutated MESP2 causes spondylocostal dysostosis in humans.
Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
61 citing papers in PubMed, 2 syntheses or guidelines pooled it, 170 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
- Genetics of non-isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases.Clinical genetics · 2022Pooled it
- A Splice Acceptor Variant inGenes · 2026Article
- BMP4 initiates and patterns ventral-caudal structures in zebrafish and human pluripotent stem cell aggregates.The EMBO journal · 2026Article
- Novel Splice Variant in theDiagnostics (Basel, Switzerland) · 2025Article
- Bone-Specific Manifestations of Spondylothoracic Dysostosis in Jarcho-Levin Syndrome.American journal of respiratory and critical care medicine · 2025Article
- Notochord segmentation in zebrafish controlled by iterative mechanical signaling.Developmental cell · 2024Article
- Cellular and molecular control of vertebrate somitogenesis.Nature reviews. Molecular cell biology · 2024Review
- Retinoic acid enhances ovarian steroidogenesis by regulating granulosa cell proliferation and MESP2/STAR/CYP11A1 pathway.Journal of advanced research · 2024Article
- Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.Orphanet journal of rare diseases · 2024Review
- Pudgy mouse rib deformities emanate from abnormal paravertebral longitudinal cartilage/bone accumulations.Biology open · 2024Article
- Axial segmentation by iterative mechanical signaling.bioRxiv : the preprint server for biology · 2023Article
- Reconstituting human somitogenesis in vitro.Nature · 2023Article
- Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis.Frontiers in pediatrics · 2023Article
- Zebrafish: an important model for understanding scoliosis.Cellular and molecular life sciences : CMLS · 2022Review
- Notch signaling pathway: architecture, disease, and therapeutics.Signal transduction and targeted therapy · 2022Review
- Clinical genetics of spondylocostal dysostosis: A mini review.Frontiers in genetics · 2022Review
- Review
- Altered Cogs of the Clock: Insights into the Embryonic Etiology of Spondylocostal Dysostosis.Journal of developmental biology · 2021Review
- Article
1 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spondylocostal dysostosis (SCD) is a term given to a heterogeneous group of disorders characterized by abnormal vertebral segmentation (AVS). We have previously identified mutations in the Delta-like 3 (DLL3) gene as a major cause of autosomal recessive spondylocostal dysostosis. DLL3 encodes a ligand for the Notch receptor and, when mutated, defective somitogenesis occurs resulting in a consistent and distinctive pattern of AVS affecting the entire spine. From our study cohort of cases of AVS, we have identified individuals and families with abnormal segmentation of the entire spine but no mutations in DLL3, and, in some of these, linkage to the DLL3 locus at 19q13.1 has been excluded. Within this group, the radiological phenotype differs mildly from that of DLL3 mutation-positive SCD and is variable, suggesting further heterogeneity. Using a genomewide scanning strategy in one consanguineous family with two affected children, we demonstrated linkage to 15q21.3-15q26.1 and furthermore identified a 4-bp duplication mutation in the human MESP2 gene that codes for a basic helix-loop-helix transcription factor. No MESP2 mutations were found in a further 7 patients with related radiological phenotypes in whom abnormal segmentation affected all vertebrae, nor in a further 12 patients with diverse phenotypes.
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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.