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A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family.

Qiuhong XiongYi LiuYu XueShichao LiuJing WangPing LiChangxin WuYanling YangHan Xiao
Published in: Human genome variation (2018)
Spondyloepiphyseal dysplasia congenita (SEDC) is an extremely rare autosomal dominant chondrodysplasia that is usually caused by substitution of glycine with another amino acid in the triple helical region of COL2A1. Herein, we describe a case of SEDC in a Chinese family with a novel de novo mutation in the COL2A1 gene, c.1150G>A (p.Gly384Ser), which may impair protein stability and lead to dysfunction of type II collagen.
Keyphrases
  • amino acid
  • oxidative stress
  • genome wide
  • copy number
  • gene expression
  • transcription factor
  • small molecule
  • genome wide identification