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

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jul 10;36(7):694-696. doi: 10.3760/cma.j.issn.1003-9406.2019.07.009.
[Article in Chinese]

Abstract

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.

MeSH terms

  • Asian People
  • Collagen Type II / genetics*
  • Humans
  • Osteochondrodysplasias / congenital*
  • Osteochondrodysplasias / genetics
  • Pedigree

Substances

  • COL2A1 protein, human
  • Collagen Type II

Supplementary concepts

  • Spondyloepiphyseal dysplasia, congenita