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

作者：Xiangjun Huang, Xiong Deng, Hongbo Xu, Song Wu, Lamei Yuan, Zhijian Yang, Yan Yang, Hao Deng · 发表于：PLoS ONE · 年份：2015 · DOI：10.1371/journal.pone.0127529 · 被引用次数：22 · 研究领域：Connective tissue disorders research、Bone Metabolism and Diseases、Cell Adhesion Molecules Research

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.