Identification of a novel COL2A1 variant in a pedigree affected with spondyloepiphyseal dysplasia congenita

Objective: To explore the molecular basis for a pedigree affected with spondyloepiphyseal dysplasia congenita (SEDC).

Methods: The proband was subjected to whole exome sequencing. Suspected variant was verified by Sanger sequencing.

Results: All patients from the pedigree were found to carry a novel missense variant c.1394G>C (p.Gly465Ala) of the COL2A1 gene. The variant was not reported previously. Provean, Polyphen-2 and Mutation Taster software predicted that the variant is highly likely to be pathogenic.

Conclusions: The c.1394G>C (p.Gly465Ala) variant of the COL2A1 gene probably underlies the SEDC in this pedigree.