title: Bone dysplasias in man: molecular insights.
abstract: The recent explosion in the number of identified genes involved in the human skeletal dysplasias has dramatically advanced this particular field. While linkage efforts are mapping hereditary disorders of the skeleton at an ever accelerating pace, progress in the Human Genome Project is providing tools for rapid gene discovery after the map location is known. Emerging themes in the molecular analysis of the skeletal dysplasias include the identification of allelic series of disorders and the existence of mutational and genetic heterogeneity in many of these conditions. Allelic series include those conditions caused by mutations in the genes encoding type II collagen (COL2A1), cartilage oligomeric matrix protein (COMP), fibroblast growth factor receptor 3 (FGFR3) and the diastrophic dysplasia sulfate transporter (DTDST). The recognition of these phenomena has initiated the analysis of the relationship between disease phenotype and gene.
authors.affiliation: Medical Genetics Branch, National Center for Human Genome Research, National Institutes of Health, Bethesda, Maryland 20892, USA. clairf@nchgr.nih.gov
authors.forename: C A
authors.initials: CA
authors.lastname: Francomano
authors.forename: I
authors.initials: I
authors.lastname: McIntosh
authors.forename: D J
authors.initials: DJ
authors.lastname: Wilkin
mesh_terms: D027321:Anion Transport Proteins; D001692:Biological Transport; D001848:Bone Diseases, Developmental / Q000235:genetics* / Q000378:metabolism; D002352:Carrier Proteins / Q000235:genetics*; D064236:Cartilage Oligomeric Matrix Protein; D003094:Collagen / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D064235:Matrilin Proteins; D026901:Membrane Transport Proteins; D010009:Osteochondrodysplasias / Q000235:genetics / Q000378:metabolism; D000076988:Sulfate Transporters; D013431:Sulfates
chemical_list: D027321:Anion Transport Proteins; D002352:Carrier Proteins; D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; D026901:Membrane Transport Proteins; C089651:SLC26A2 protein, human; D000076988:Sulfate Transporters; D013431:Sulfates; C577553:TSP5 protein, human; D003094:Collagen