L.H. Cao, L.B. Wang, S.S. Wang, H.W. Ma, C.Y. Ji, Y. Luo
Published: May 24, 2011
Genet. Mol. Res. 10(2): 955-963
DOI: https://doi.org/10.4238/vol10-2gmr1111

Cite this Article:
L.H. Cao, L.B. Wang, S.S. Wang, H.W. Ma, C.Y. Ji, Y. Luo (2011). Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia. Genet. Mol. Res. 10(2): 955-963. https://doi.org/10.4238/vol10-2gmr1111

About the Authors
L.H. Cao, L.B. Wang, S.S. Wang, H.W. Ma, C.Y. Ji, Y. Luo
Corresponding Author: Y. Luo
Email: luoyang@mail.cmu.edu.cn

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.

Key words: PSACH, COMP, Gene mutation, Skeletal dysplasia.