Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita

► It is the first report of a series of cases of Chinese SEDC families. ► We identified found three novel missense mutations (G447A, G456A, and G1152D). ► Our study extends the mutation spectrum of SEDC and is helpful in early molecular diagnoses of SEDC.