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
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Case Reports Retracted Publication
Identification of a novel mutation of the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita.
To 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. ⋯ c.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.