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): 955-63, 2011 May 24.
Article
in En
| MEDLINE
| ID: mdl-21644213
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Achondroplasia
/
Glycoproteins
/
Calcium
/
Extracellular Matrix Proteins
/
Mutation
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Humans
Language:
En
Journal:
Genet Mol Res
Journal subject:
BIOLOGIA MOLECULAR
/
GENETICA
Year:
2011
Type:
Article
Affiliation country:
China