Spondyloepiphyseal dysplasia

Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia

L. H. Cao, Wang, L., Ji, C. Y., Wang, L. B., Ma, H. W., and Luo, Y., Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia, vol. 11, pp. 4130-4137, 2012.

Spondyloepiphyseal dysplasia (SED) is an autosomal dominant skeletal dysplasia characterized by short stature, abnormal epiphyses and flattened vertebral bodies. SED is mainly caused by mutations in the gene encoding the type II procollagen α-1 chain (COL2A1). We looked for mutations in COL2A1 in three unrelated Chinese families with SED. Putative mutations were confirmed by RFLP analysis. We identified three missense mutations (p.G504S, p.G801S and p.G1176V) located in the triple-helical domain; p.G801S and p.G1176V are novel mutations.

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