A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita.

Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant skeletal dysplasia characterized by short stature, diminished joint mobility, dislocation of hip, absent femoral head ossification, scoliosis and flattened vertebral bodies. SEDC is caused by mutations in the gene encoding the type II procollagen α-1 chain (COL2A1). We screened COL2A1 gene mutations in four affected individuals from a Chinese family with SEDC. A novel missense mutation c.3257G>T (p.G1086V), which located in the triple-helical domain, was identified in the SEDC patients. Our study extends the mutation spectrum of SEDC and confirms genotype-phenotype relationship between mutations in the COL2A1 gene and clinical findings of SEDC.