Article
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.
Human genetics - 1 Jan 2003
Mabuchi Akihiko, Manabe Noriyo, Haga Nobuhiko, Kitoh Hiroshi, Ikeda Toshiyuki, Kawaji Hiroyuki, Tamai Kazuya, Hamada Junichiro, Nakamura Shigeru, Brunetti-Pierri Nicola, Kimizuka Mamori, Takatori Yoshio, Nakamura Kozo, Nishimura Gen, Ohashi Hirofumi, Ikegawa Shiro
Abstract excerpt
Mutations in the gene encoding cartilage oligomeric matrix protein ( COMP) cause two skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). More than 40 mutations have been identified; however, genotype-phenotype relationships are not well delineated. Further, mutations other than in-frame insertion/deletions and substitutions have not been found, and currently known mutations...
Topics
- Achondroplasia
- Base Sequence
- Cartilage Oligomeric Matrix Protein
- Cell Line, Transformed
- Dwarfism
- Extracellular Matrix Proteins
- Female
- Frameshift Mutation
- Genotype