title: Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia.
abstract: Pseudoachondroplasia is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature, joint laxity, and early onset osteoarthrosis. Pseudoachondroplasia is caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP). We looked for mutations in the COMP gene in three sporadic Chinese pseudoachondroplasia patients and identified two novel mutations, c.1189G>T (p.D397Y) and c.1220G>A (p.C407Y), and one recurrent mutation, c.1318G>C (p.G440R), in the calcium binding type III repeats of COMP. This study confirms the relationship between mutations of the COMP gene and clinical findings of pseudoachondroplasia; it also provides evidence for the importance of the calcium binding domains to the functioning of COMP.
authors.affiliation: Research Center for Medical Genomics, China Medical University, Shenyang, China.
authors.forename: L H
authors.initials: LH
authors.lastname: Cao
authors.forename: L B
authors.initials: LB
authors.lastname: Wang
authors.forename: S S
authors.initials: SS
authors.lastname: Wang
authors.forename: H W
authors.initials: HW
authors.lastname: Ma
authors.forename: C Y
authors.initials: CY
authors.lastname: Ji
authors.forename: Y
authors.initials: Y
authors.lastname: Luo
mesh_terms: D000130:Achondroplasia / Q000378:metabolism*; D001483:Base Sequence; D002118:Calcium / Q000378:metabolism*; D064236:Cartilage Oligomeric Matrix Protein; D017931:DNA Primers; D016326:Extracellular Matrix Proteins / Q000235:genetics* / Q000378:metabolism; D006023:Glycoproteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D064235:Matrilin Proteins; D009154:Mutation
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; D017931:DNA Primers; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human; D002118:Calcium