title: Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.
abstract: Pseudoachondroplasia (PSACH) is a well characterized dwarfing condition mapping to chromosome 19p12-13.1. Cartilage oligomeric matrix protein (COMP), a cartilage specific protein, maps to the same location within a contig that spans the PSACH locus. Using single strand conformation polymorphism (SSCP) analysis and nucleotide sequencing we have identified COMP mutations in eight familial and isolated PSACH cases. All mutations involve either a single base-pair change or a three base-pair deletion in exon 17B. Six mutations delete or change a well conserved aspartic acid residue within the calcium-binding type 3 repeats. These results demonstrate that mutations in the COMP gene cause pseudochondroplasia.
authors.affiliation: Department of Pediatrics, University of Texas Medical School at Houston 77225, USA.
authors.forename: J T
authors.initials: JT
authors.lastname: Hecht
authors.forename: L D
authors.initials: LD
authors.lastname: Nelson
authors.forename: E
authors.initials: E
authors.lastname: Crowder
authors.forename: Y
authors.initials: Y
authors.lastname: Wang
authors.forename: F F
authors.initials: FF
authors.lastname: Elder
authors.forename: W R
authors.initials: WR
authors.lastname: Harrison
authors.forename: C A
authors.initials: CA
authors.lastname: Francomano
authors.forename: C K
authors.initials: CK
authors.lastname: Prange
authors.forename: G G
authors.initials: GG
authors.lastname: Lennon
authors.forename: M
authors.initials: M
authors.lastname: Deere
mesh_terms: D000130:Achondroplasia / Q000235:genetics*; D001483:Base Sequence; D002356:Cartilage / Q000378:metabolism; D064236:Cartilage Oligomeric Matrix Protein; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D016326:Extracellular Matrix Proteins; D005260:Female; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D064235:Matrilin Proteins; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; D017931:DNA Primers; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human