Article
Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1.
American journal of medical genetics. Part A - 1 Jul 2015
Kawano Osamu, Nakamura Akie, Morikawa Shuntaro, Uetake Kimiaki, Ishizu Katsura, Tajima Toshihiro
Abstract excerpt
Spondyloepiphyseal dysplasia congenita (SEDC) is a group of rare inherited chondrodysplasias characterized by short stature, abnormal epiphyses, and flattened vertebral bodies. SEDC is usually caused by substitution of glycine residue with another amino acid in the triple helical domains of alpha 1 chains, which consist of type II collagen (COL2A1). Herein, we describe a unique case of SEDC with mild coxa vara...
Topics
- Alleles
- Base Sequence
- Child, Preschool
- Collagen Type II
- Coxa Vara
- DNA Mutational Analysis
- Female
- Heterozygote
- Humans
- Japan
- Molecular Sequence Data
- Osteochondrodysplasias
- Phenotype
- Point Mutation
- Polymerase Chain Reaction