ArticleEuropean spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society2014
A novel mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a three-generation family.
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, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 17 citations in OpenAlex.
- Rgp1 contributes to craniofacial cartilage development and Rab8a-mediated collagen II secretion.Frontiers in endocrinology · 2023Article
- Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1.BMC medical genomics · 2021Article
- Targeted Deletion of Loxl3 by Col2a1-Cre Leads to Progressive Hearing Loss.Frontiers in cell and developmental biology · 2021Article
- Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.Molecular genetics & genomic medicine · 2020Article
- Article
- Review
- Identification of an Autosomal Dominant Mutation in theMolecular syndromology · 2019Article
- Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report.BMC pediatrics · 2017Article
- 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
- Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita.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 · 2015Article
- Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.PloS one · 2015Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo investigate the genotype of COL2A1 in a three-generation spondyloepiphyseal dysplasia congenita (SEDC) family.
methodsFive affected individuals from a Chinese SEDC family were enrolled in the study. All patients underwent thorough physical and radiographic examinations. DNA samples of the affected patients and the healthy controls were collected with the informed consent obtained from each participant. Two short tandem repeat polymorphic markers flanking COL2A1 gene region were detected to determine the haplotype of each patient. Subsequently, sequence analysis was performed in COL2A1 gene to identify potential genetic mutation.
resultsHaplotype analysis showed that the same disease-associated haplotype was segregated through the whole pedigree. A maximum LOD score of 1.5 was obtained with D12S85 and D12S368. DNA sequence analysis revealed a c.1636 G/A transition in exon 25 of the COL2A1 gene, which converted the codon GGT for glycine at position 546 to AGT, a codon for serine. The patients were all heterozygous for the mutation G546S, which was absent in either of the unaffected family members or of the normal individuals.
conclusionsThis is the first familial report of G546S mutation in the COL2A1 gene that results in SEDC. Although great achievements have been made in the recognition of the mutation spectrum, more intensive studies are warranted to further identify correlations between genotype and phenotype.
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