title: Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia.
abstract: Pseudoachondroplasia (PSACH) is an autosomal dominant dwarfing condition characterized by disproportionate short stature, joint laxity, and early-onset osteoarthrosis. PSACH is caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP). We are reporting on mutations in COMP in 12 patients with PSACH, including ten novel mutations. Eleven of the mutations are in exons 17A, 17B, and 18A, which encode the calcium-binding domains, and one mutation is in exon 19, which encodes part of the carboxy-terminal globular domain. Two of the mutations identified are the common delGAC(1430-1444) in exon 17B, which accounts for 36% of identified PSACH mutations. This report increases the range of mutations in COMP that cause PSACH and provides additional evidence for the importance of the calcium-binding domains and the globular domain to the function of COMP.
authors.affiliation: Department of Pediatrics, University of Texas Medical School at Houston, 77225-0708, USA.
authors.forename: M
authors.initials: M
authors.lastname: Deere
authors.forename: T
authors.initials: T
authors.lastname: Sanford
authors.forename: H L
authors.initials: HL
authors.lastname: Ferguson
authors.forename: K
authors.initials: K
authors.lastname: Daniels
authors.forename: J T
authors.initials: JT
authors.lastname: Hecht
mesh_terms: D000130:Achondroplasia / Q000235:genetics* / Q000503:physiopathology; D000595:Amino Acid Sequence; D002135:Calcium-Binding Proteins / Q000235:genetics / Q000378:metabolism; D064236:Cartilage Oligomeric Matrix Protein; D004392:Dwarfism / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics* / Q000378:metabolism; D006023:Glycoproteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D064235:Matrilin Proteins; D008969:Molecular Sequence Data; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics; D017354:Point Mutation; D014158:Transcription, Genetic
chemical_list: D002135:Calcium-Binding Proteins; D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human