A novel mutation in exon 11 of COMP gene in a Chinese family with pseudoachondroplasia

摘要

Pseudoachondroplasia (PSACH) is a relatively common skeletal dysplasia characterized by disproportionate short stature, joint laxity, early-onset osteoarthrosis, and dysplasia of the spine, epiphysis, and metaphysis. It is known as an autosomal dominant disease which results exclusively from mutations in the gene for Cartilage Oligomeric Matrix Protein (COMP). We have identified a five year old Chinese boy who was diagnosed as pseudoachondroplasia according to clinical manifestations and X-ray symptoms. His mother seems like another effected individual because of the apparent short stature. Genomic DNA was extracted from peripheral blood lymphocytes. DNA sequencing analysis of the COMP gene revealed a heterozygous mutation (c.1219?T??C,p.Cys407Arg) in the patient. His mother was also affected with the same genetic change. Mutations in COMP gene is proved to change the Cartilage Oligomeric Matrix Protein. This missense mutation (c.1219?T??C) has not been reported before and it is not belongs to polymorphism sites. Our results extend the spectrum of mutations in COMP gene leading to pseudoachondroplasia.