title: A novel COMP mutation in a Chinese patient with pseudoachondroplasia.
abstract: 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.
authors.affiliation: Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, China.
authors.forename: Xuemei
authors.initials: X
authors.lastname: Xie
authors.forename: Lihong
authors.initials: L
authors.lastname: Liao
authors.forename: Jinzhi
authors.initials: J
authors.lastname: Gao
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Luo
mesh_terms: D000130:Achondroplasia / Q000175:diagnosis / Q000235:genetics*; D044466:Asian People; D064236:Cartilage Oligomeric Matrix Protein; D002675:Child, Preschool; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006023:Glycoproteins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D064235:Matrilin Proteins; D020125:Mutation, Missense
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human