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

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

doi:10.1038/hgv.2017.59

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

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

Authors

Qiuhong Xiong¹, Yi Liu², Yu Xue¹, Shichao Liu¹, Jing Wang¹, Ping Li¹, Changxin Wu¹, Yanling Yang², Han Xiao¹

Affiliations

¹ Institutes of Biomedical Sciences, Key Laboratory of Chemical Biology and Molecular Engineering of National Ministry of Education, Shanxi University, Taiyuan, China.
² Department of Pediatrics, Peking University First Hospital, Beijing, China.

Abstract

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.