ArticleEuropean spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society2015
Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita.
Article in 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, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It has been retracted, and should not be counted. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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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
4 citing papers in PubMed, 4 citations in OpenAlex.
- Mutation in theFrontiers in genetics · 2024Article
- Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.Molecular genetics & genomic medicine · 2020Article
- Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation ofBioMed research international · 2018Article
- Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families.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 · 2016Review
Corrections and comments
- Retraction · 2021-10-08Duplication of/in Article ·
- Retracted
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify potential disease-causing mutation in the COL2A1 gene in a Chinese family with autosomal dominant spondyloepiphyseal dysplasia congenita (SEDC) and to analyze the phenotype-genotype correlation.
methodsComplete physical and radiographic examinations of four affected individuals from SEDC family were conducted. Genomic DNA were isolated from peripheral blood leukocytes. All 54 exons and exon-intron boundaries of the COL2A1 gene were amplified by polymerase chain reaction (PCR) and bidirectionally sequenced.
resultsAll four affected individuals were found carried a novel missense mutation of c.2224G>A (p.Gly687Ser) in COL2A1, while normal members of the family and 50 healthy controls did not have this mutation. Protein prediction of missense mutation by polyphen-2 and SIFT software and mutation taster indicated severe damage to the function.
conclusionsc.2224G>A (p.Gly687Ser) is a novel mutation of COL2A1 associated with spondyloepiphyseal dysplasia congenital. There are heterozygous of phenotype for the mutation in members of the pedigree analyzed. Onset becomes more earlier and severe with each successive generation.
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