Article
Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.
PloS one - 1 Jan 2015
Huang Xiangjun, Deng Xiong, Xu Hongbo, Wu Song, Yuan Lamei, Yang Zhijian, Yang Yan, Deng Hao
Abstract excerpt
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...
Topics
- Adult
- Asian People
- Collagen Type II
- Exome
- Female
- Genetic Association Studies
- Humans
- Male
- Mutation
- Osteochondrodysplasias
- Pedigree
- Young Adult