A novel mutation of the COMP gene in a Thai family with pseudoachondroplasia.

Abstract

Pseudoachondroplasia (PSACH) is an autosomal dominant disorder characterized by disproportionate short stature and precocious osteoarthritis. Radiographic manifestations include epiphyseal, metaphyseal and vertebral abnormalities. Mutations in the cartilage oligomeric matrix protein (COMP) have been identified to cause PSACH. Most of them affect one of the eight calcium-binding domains of COMP. We describe a clinically and radiologically typical PSACH 4-year-old girl and her 31-year-old father. A novel mutation, 1345-1347CCC deletion in exon 13, of COMP was identified in both patients. The deletion would be expected to result in the loss of the conserved proline at codon 449 from the sixth calcium-binding domain. This result further supports that COMP is the only gene, discovered to date, responsible for PSACH across different populations and that the calcium-binding domains are important to the function of the normal COMP.

• Authors: Vorasuk Shotelersuk, Rachaneekorn Punyashthiti
• Journal: International journal of molecular medicine (Int J Mol Med) Vol. 9 Issue 1 Pg. 81-4 (Jan 2002) ISSN: 1107-3756 [Print] Greece
• PMID: 11745002 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Calcium-Binding Proteins
• Cartilage Oligomeric Matrix Protein
• Extracellular Matrix Proteins
• Glycoproteins
• Matrilin Proteins
• TSP5 protein, human

Topics

• Achondroplasia
• Adult
• Calcium-Binding Proteins (genetics)
• Cartilage Oligomeric Matrix Protein
• Child, Preschool
• Dwarfism (diagnostic imaging, genetics)
• Extracellular Matrix Proteins (genetics)
• Female
• Glycoproteins (genetics)
• Humans
• Male
• Matrilin Proteins
• Mutation
• Osteochondrodysplasias (diagnostic imaging, genetics)
• Protein Structure, Tertiary
• Radiography
• Sequence Deletion
• Thailand