Advanced search
1 file | 701.14 KB

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia multiple epiphyseal dysplasia disease spectrum

Author
Organization
Abstract
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are autosomal dominant osteochondrodysplasias that result in mild to severe short-limb dwarfism and early-onset osteoarthrosis. PSACH and some forms of MED result from mutations in the gene for cartilage oligomeric matrix protein (COMP; OMIM 600310 [http://www3.ncbi.nlm.nih.gov:80/ htbin-post/Omim/dispmim?600310]). We report the identification of COMP mutations in an additional 14 families with PSACH or MED phenotypes. Mutations predicted to result in single-amino acid deletions or substitutions, all in the region of the COMP gene encoding the calmodulin-like repeat elements, were identified in patients with moderate to severe PSACH. We also identified within this domain a missense mutation that produced MED Fairbank. In two families, one with mild PSACH and the second with a form of MED, we identified different substitutions for a residue in the carboxyl-terminal globular region of COMP. Both the clinical presentations of these two families and the identification of COMP-gene mutations provide evidence of phenotypic overlap between PSACH and MED. These data also reveal a role for the carboxyl-terminal domain in the structure and/or function of COMP.
Keywords
CHROMOSOME-19, PERICENTROMERIC REGION, COLLAGEN, LINKAGE, BINDING, THROMBOSPONDINS, CANDIDATE, RECEPTOR, DOMAIN, EDM2

Downloads

  • (...).pdf
    • full text
    • |
    • UGent only
    • |
    • PDF
    • |
    • 701.14 KB

Citation

Please use this url to cite or link to this publication:

Chicago
Briggs, Michael D, Geert Mortier, Willam G Cole, Lily M King, Steven S Golik, Jacky Bonaventure, Lieve Nuytinck, et al. 1998. “Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia Multiple Epiphyseal Dysplasia Disease Spectrum.” American Journal of Human Genetics 62 (2): 311–319.
APA
Briggs, M. D., Mortier, G., Cole, W. G., King, L. M., Golik, S. S., Bonaventure, J., Nuytinck, L., et al. (1998). Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia multiple epiphyseal dysplasia disease spectrum. AMERICAN JOURNAL OF HUMAN GENETICS, 62(2), 311–319.
Vancouver
1.
Briggs MD, Mortier G, Cole WG, King LM, Golik SS, Bonaventure J, et al. Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia multiple epiphyseal dysplasia disease spectrum. AMERICAN JOURNAL OF HUMAN GENETICS. 1998;62(2):311–9.
MLA
Briggs, Michael D, Geert Mortier, Willam G Cole, et al. “Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia Multiple Epiphyseal Dysplasia Disease Spectrum.” AMERICAN JOURNAL OF HUMAN GENETICS 62.2 (1998): 311–319. Print.
@article{176899,
  abstract     = {Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are autosomal dominant osteochondrodysplasias that result in mild to severe short-limb dwarfism and early-onset osteoarthrosis. PSACH and some forms of MED result from mutations in the gene for cartilage oligomeric matrix protein (COMP; OMIM 600310 [http://www3.ncbi.nlm.nih.gov:80/ htbin-post/Omim/dispmim?600310]). We report the identification of COMP mutations in an additional 14 families with PSACH or MED phenotypes. Mutations predicted to result in single-amino acid deletions or substitutions, all in the region of the COMP gene encoding the calmodulin-like repeat elements, were identified in patients with moderate to severe PSACH. We also identified within this domain a missense mutation that produced MED Fairbank. In two families, one with mild PSACH and the second with a form of MED, we identified different substitutions for a residue in the carboxyl-terminal globular region of COMP. Both the clinical presentations of these two families and the identification of COMP-gene mutations provide evidence of phenotypic overlap between PSACH and MED. These data also reveal a role for the carboxyl-terminal domain in the structure and/or function of COMP.},
  author       = {Briggs, Michael D and Mortier, Geert and Cole, Willam G and King, Lily M and Golik, Steven S and Bonaventure, Jacky and Nuytinck, Lieve and De Paepe, Anne and Leroy, Juliaan and Biesecker, Leslie and Lipson, Mark and Wilcox, William R and Lachman, Ralph S and Rimoin, David L and Knowlton, Robert G and Cohn, Daniel H},
  issn         = {0002-9297},
  journal      = {AMERICAN JOURNAL OF HUMAN GENETICS},
  keyword      = {CHROMOSOME-19,PERICENTROMERIC REGION,COLLAGEN,LINKAGE,BINDING,THROMBOSPONDINS,CANDIDATE,RECEPTOR,DOMAIN,EDM2},
  language     = {eng},
  number       = {2},
  pages        = {311--319},
  title        = {Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia multiple epiphyseal dysplasia disease spectrum},
  url          = {http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1376889/},
  volume       = {62},
  year         = {1998},
}

Web of Science
Times cited: