Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2817239 | Gene | 2013 | 5 Pages |
•Identifying a novel COMP mutation (c.1511G>A) in pseudoachondroplasia.•Confirming the mutation is not a SNP.•Summarizing all the mutations of COMP have identified in pseudoachondroplasia.
A 2.75-year-old Chinese boy presented with typical clinical features of pseudoachondroplasia, including disproportionate short-limb short stature, brachydactyly, genu varus and waddling gait. Radiologically, tubular bones were short with widened metaphyses, irregular and small epiphyses; anterior tonguing or beaking of vertebral bodies were characteristic. DNA sequencing analysis of the COMP gene revealed a heterozygous mutation (c.1511G>A, p.Cys504Tyr) in the patient but his parents were unaffected without this genetic change. The missense mutation (c.1511G>A) was not found in 100 healthy controls and has not been reported previously. Our findings expand the spectrum of known mutations in COMP leading to pseudoachondroplasia.