Article
Characterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review.
Molecular genetics & genomic medicine - 1 May 2021
Wu Huixiao, Wang Shuping, Li Guimei, Yao Yangyang, Wang Ning, Sun Xiaoqing, Fang Li, Jiang Xiuyun, Zhao Jiajun, Wang Yanzhou, Xu Chao
Abstract excerpt
BACKGROUND: Schmid-type metaphyseal chondrodysplasia (SMCD) is a rare autosomal dominant skeletal dysplasia caused by heterozygous mutations in COL10A1, the gene which encodes collagen type X alpha 1 chain. However, its genotype-phenotype relationship has not been fully determined. Subjects and Methods The proband is a 2-year-old boy, born of non-consanguineous Chinese parents. We conducted a systematic analysis...
Topics
- Child, Preschool
- Collagen Type X
- Heterozygote
- Humans
- Male
- Mutation
- Osteochondrodysplasias
- Phenotype
- Protein Multimerization