Article
Identification of three novel mutations in the COL2A1 gene in four unrelated Chinese families with spondyloepiphyseal dysplasia congenita.
Biochemical and biophysical research communications - 7 Oct 2011
Zhang Zeng, He Jin-Wei, Fu Wen-Zhen, Zhang Chang-Qing, Zhang Zhen-Lin
Abstract excerpt
INTRODUCTION: Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant skeletal dysplasia characterized by short stature, abnormal epiphyses, and flattened vertebral bodies. The condition occurs through a mutation in the COL2A1 gene that encodes the type II procollagen alpha1 chain (proalpha1 (II)). METHOD AND RESULTS: We investigated nine affected individuals from four unrelated Chinese families...
Topics
- Asian People
- Child
- Child, Preschool
- Collagen Type II
- DNA Mutational Analysis
- Female
- Humans
- Male
- Mutation
- Osteochondrodysplasias
- Pedigree
- Radiography