ArticlePloS one2015
Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 22 citations in OpenAlex.
- Article
- Analysis of odontoid parameters in adolescent idiopathic scoliosis patients with different curve types.Frontiers in pediatrics · 2024Article
- Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.Molecular genetics & genomic medicine · 2020Article
- HeterozygousBioscience reports · 2019Article
- Identification of an Autosomal Dominant Mutation in theMolecular syndromology · 2019Article
- Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1.Journal of molecular neuroscience : MN · 2018Article
- COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report.Molecular medicine reports · 2018Article
- Identification of a Novel Mutation in the ABCA4 Gene in a Chinese Family with Retinitis Pigmentosa Using Exome Sequencing.Bioscience reports · 2018Article
- Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.Journal of cellular and molecular medicine · 2017Article
- A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis.Journal of cellular and molecular medicine · 2016Article
- 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
- Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.Molecular pain · 2016Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short-trunk dwarfism, skeletal and vertebral deformities. Exome sequencing and Sanger sequencing were performed in a Chinese Han family with typical SEDC, and a novel mutation, c.620G>A (p.Gly207Glu), in the collagen type II alpha-1 gene (COL2A1) was identified. The mutation may impair protein stability, and lead to dysfunction of type II collagen. Family-based study suggested that the mutation is a de novo mutation. Our study extends the mutation spectrum of SEDC and confirms genotype-phenotype relationship between mutations at glycine in the triple helix of the alpha-1(II) chains of the COL2A1 and clinical findings of SEDC, which may be helpful in the genetic counseling of patients with SEDC.
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