ArticleAmerican journal of human genetics1999
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis 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
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 81 citations in OpenAlex.
- Genetics of non-isolated hemivertebra: A systematic review of fetal, neonatal, and infant cases.Clinical genetics · 2022Pooled it
- Expression of DLL3 and SEZ6 in the Spectrum of Neuroendocrine Neoplasia.Endocrine pathology · 2025Article
- Article
- Retracted: Diagnostic Classification and Prognostic Prediction Using Common Genetic Variants in Autism Spectrum Disorder: Genotype-Based Deep Learning.JMIR medical informatics · 2021Article
- Genetic ancestry plays a central role in population pharmacogenomics.Communications biology · 2021Article
- Spondylocostal Dysostosis: A Literature Review and Case Report with Long-Term Follow-Up of a Conservatively Managed Patient.Case reports in orthopedics · 2018Article
- A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas.Journal of medicine and life · 2013Article
- Myeloproliferation and hematopoietic stem cell dysfunction due to defective Notch receptor modification by O-fucose glycans.Seminars in immunopathology · 2012Review
- The mouse notches up another success: understanding the causes of human vertebral malformation.Mammalian genome : official journal of the International Mammalian Genome Society · 2011Review
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in an Israeli family.Neuropsychiatric disease and treatment · 2011Article
- Genomic regions associated with kyphosis in swine.BMC genetics · 2010Article
- Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations.Scoliosis · 2007Article
- Jarcho-Levin syndrome.Indian journal of pediatrics · 2006Article
- Mutated MESP2 causes spondylocostal dysostosis in humans.American journal of human genetics · 2004Article
- 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.Journal of medical genetics · 2003Article
- Congenital and idiopathic scoliosis: clinical and genetic aspects.Clinical medicine & research · 2003Review
- A case report of Jarcho-Levin syndrome.Journal of family & community medicineArticle
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In spondylocostal dysostosis (SD), vertebral-segmentation defects are associated with rib anomalies. This results in short-trunk short stature, nonprogressive kyphoscoliosis, and radiological features of multiple hemivertebrae and rib fusions. SD can be familial, and both autosomal dominant and autosomal recessive (AR) inheritance have been reported, but no genes have been identified or localized for nonsyndromic SD in humans. We performed genomewide scanning by homozygosity mapping in a large consanguineous ARSD Arab Israeli family with six definitely affected members. Significant linkage was found to chromosome 19q13, with a LOD score of 6.9. This was confirmed in a second Pakistani family with three affected members, with a LOD score of 2.4. The combined-haplotype data identify a critical region between D19S570 and D19S908, an interval of 8.5 cM on 19q13.1-19q13.3. This is the first study to localize a gene for nonsyndromic SD. ARSD is clinically heterogeneous and is likely to result from mutations in developmental genes or from regulating transcription factors. Identification of these genes will improve the understanding of the molecular processes contributing to both normal and abnormal human vertebral development.
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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.