[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.

CONCLUSION

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