Published Date: January 23, 2018

Full Text Article

A novel <em>de novo</em> mutation in <em>COL2A1</em> leading to spondyloepiphyseal dysplasia congenita in a Chinese family

Authors: Qiuhong Xiong, Yi Liu, Yu Xue, Shichao Liu, Jing Wang, Ping Li, Changxin Wu, Yanling Yang, Han Xiao

Hum Genome Var. 2018 Jan 11;5:17059. doi: 10.1038/hgv.2017.59. eCollection 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.

PMID: 29354277DOI: 10.1038/hgv.2017.59PMC: PMC5763142