A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.

Abstract

Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia with an estimated incidence of ~1/60000 that is characterized by disproportionate short stature, brachydactyly, joint laxity, and early-onset osteoarthritis. COMP encodes the cartilage oligomeric matrix protein, which is expressed predominantly in the extracellular matrix (ECM) surrounding the cells that make up cartilage, ligaments, and tendons. Mutations in COMP are known to give rise to PSACH. In this study, we identified a novel nucleotide mutation (NM_000095.2: c.1317C>G, p.D439E) in COMP responsible for PSACH in a Chinese family by employing whole-exome sequencing (WES) and built the structure model of the mutant protein to clarify its pathogenicity. The novel mutation cosegregated with the affected individuals. Our study expands the spectrum of COMP mutations and further provides additional genetic testing information for other PSACH patients.

• Authors: Bing-Bing Guo, Jie-Yuan Jin, Zhuang-Zhuang Yuan, Lei Zeng, Rong Xiang
• Journal: BioMed research international (Biomed Res Int) Vol. 2021 Pg. 6678531 ( 2021) ISSN: 2314-6141 [Electronic] United States
• PMID: 33748277 (Publication Type: Case Reports, Clinical Trial, Journal Article)
• Copyright: Copyright © 2021 Bing-Bing Guo et al.

Chemical References

• COMP protein, human
• Cartilage Oligomeric Matrix Protein

Topics

• Achondroplasia (genetics)
• Adolescent
• Alleles
• Amino Acid Substitution
• Cartilage Oligomeric Matrix Protein (genetics)
• Family
• Female
• Humans
• Male
• Mutation, Missense
• Exome Sequencing