Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita

Xiangjun Huang; Xiong Deng; Hongbo Xu; Song Wu; Lamei Yuan; Zhijian Yang; Yan Yang; Hao Deng

doi:10.1371/journal.pone.0127529

Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita

PLoS One. 2015 Jun 1;10(6):e0127529. doi: 10.1371/journal.pone.0127529. eCollection 2015.

Authors

Xiangjun Huang¹, Xiong Deng¹, Hongbo Xu¹, Song Wu², Lamei Yuan¹, Zhijian Yang¹, Yan Yang¹, Hao Deng¹

Affiliations

¹ Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.
² Department of Orthopedics, the Third Xiangya Hospital, Central South University, Changsha, China.

Abstract

Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short-trunk dwarfism, skeletal and vertebral deformities. Exome sequencing and Sanger sequencing were performed in a Chinese Han family with typical SEDC, and a novel mutation, c.620G>A (p.Gly207Glu), in the collagen type II alpha-1 gene (COL2A1) was identified. The mutation may impair protein stability, and lead to dysfunction of type II collagen. Family-based study suggested that the mutation is a de novo mutation. Our study extends the mutation spectrum of SEDC and confirms genotype-phenotype relationship between mutations at glycine in the triple helix of the alpha-1(II) chains of the COL2A1 and clinical findings of SEDC, which may be helpful in the genetic counseling of patients with SEDC.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Asian People
Collagen Type II / deficiency*
Collagen Type II / genetics
Exome / genetics
Female
Genetic Association Studies
Humans
Male
Mutation / genetics
Osteochondrodysplasias / congenital*
Osteochondrodysplasias / genetics
Pedigree
Young Adult

Substances

COL2A1 protein, human
Collagen Type II

Supplementary concepts

Spondyloepiphyseal dysplasia, congenita

Grants and funding

This work was supported by National Natural Science Foundation of China (81101339, 81001476, 81441033); Natural Science Foundation of Hunan Province, China (10JJ4020, 10JJ5029); Postgraduates Innovative Pilot Scheme of Hunan Province (7138000008), China; Fundamental Research Funds for the Central Universities of Central South University (2014zzts368); and the Construction Fund for Key Subjects of the Third Xiangya Hospital, Central South University, China.