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

American Journal of Human Genetics

Volumn 62, Issue 2, 1998, Pages 311-319

  Briggs, Michael D ^a,b,j   Mortier, Geert R ^c   Cole, William G ^d   King, Lily M ^a   Golik, Steven S ^a   Bonaventure, Jacky ^e   Nuytinck, Lieve ^c   De Paepe, Anne ^c   Leroy, Jules G ^c   Biesecker, Leslie ^f   Lipson, Mark ^g   Wilcox, William R ^a,b   Lachman, Ralph S ^b   Rimoin, David L ^a,b   Knowlton, Robert G ^h   Cohn, Daniel H ^a,b,i  

^a BURNS AND ALLEN RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^g KAISER PERMANENTE MEDICAL CENTER   (United States)

^h THOMAS JEFFERSON UNIVERSITY   (United States)

ⁱ CEDARS SINAI MEDICAL CENTER   (United States)

^j UNIVERSITY OF MANCHESTER   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PROTEIN;

ACHONDROPLASIA; AMINO ACID SUBSTITUTION; ARTICLE; BONE DISEASE; BONE DYSPLASIA; CARTILAGE; CLINICAL ARTICLE; DNA SEQUENCE; EPIPHYSIS DISEASE; EXON; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC DISORDER; HUMAN; MALE; MISSENSE MUTATION; OSTEOARTHRITIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 17344374325     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301713     Document Type: Article

References (33)

1. Ashley CT, Warren ST (1996) Trinucleotide repeat expansions and human diseases. Annu Rev Genet 29:703-728
2. Ballo R, Briggs MD, Cohn DH, Knowlton RG, Beighton PH, Ramesar RS (1997) Multiple epiphyseal dysplasia, Ribbing type: a novel point mutation in the COMP gene in a South African family. Am J Med Genet 68:396-400
3. Briggs MD, Choi H, Warman ML, Loughlin JA, Wordsworth P, Sykes BC, Irven CMM, et al (1994) Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene. Am J Hum Genet 55:678-684
4. Briggs MD, Hoffman SMG, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, et al (1995a) Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nat Genet 10:330-336
5. Briggs MD, Rasmussen IM, Weber JL, Yuen J, Reinker K, Garber AP, Rimoin DL, et al (1993) Genetic linkage of pseudoachondroplasia to markers in the pericentromeric region of chromosome 19. Genomics 18:656-660
6. Briggs MD, Rimoin DL, Biesecker LG, Lipson MH, Bonaventure J, Lachman RS, Cohn DH (1995b) Genetic evidence for a third multiple epiphyseal dysplasia locus. Second Annual Meeting of the American College of Medical Genetics, Los Angeles, March 6-9, 1995 (abstract)
7. Cohn DH, Briggs MD, King LM, Rimoin DL, Wilcox WR, Lachman RS, Knowlton RG (1996) Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia. Ann N Y Acad Sci 785:188-194
8. Deere M, Blanton SH, Scott CI, Langer LO, Pauli RM, Hecht JT (1995) Genetic heterogeneity in multiple epiphyseal dysplasia. Am J Hum Genet 56:698-704
9. DiCesare PE, Morgelin M, Mann K, Paulsson M (1994) Cartilage oligomeric matrix protein and thrombospondin 1: purification from articular cartilage, electron microscopic structure and chondrocyte binding. Eur J Biochem 223: 927-937
10. Fairbank T (1947) Dysplasia epiphysialis multiplex. Br J Surg 34:225-232
11. Gao A, Frazier WA (1994) Identification of a receptor candidate for the carboxyl-terminal cell binding domain of thrombospondins. J Biol Chem 269:29650-29657
12. Gao A, Lindberg FP, Finn MB, Blystone SD, Brown EJ, Frazier WA (1996) Integrin-associated protein is a receptor for the C-terminal domain of thrombospondin. J Biol Chem 271: 21-24
13. Hecht JT, Francomano CA, Briggs MD, Williams M, Conner B, Horton WA, Warman ML, et al (1993) Linkage of typical pseudoachondroplasia to chromosome 19. Genomics 18: 661-666
14. Hecht JT, Nelson LD, Crowder E, Wang Y, Elder FFB, Harrison WR, Francomano CA, et al (1995) Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. Nat Genet 10:325-329
15. Hedbom E, Antonsson P, Hjerpe A, Aeschlimann D, Paulsson M, Rosa-Pimental E, Sommarin Y, et al (1992) Cartilage matrix proteins: an acidic oligomeric protein (COMP) detected only in cartilage. J Biol Chem 267:6132-6136
16. International Working Group on Constitutional Diseases of Bone (1992) International classification of osteochondrodysplasias. Am J Med Genet 44:223-229
17. Kink JA, Maley ME, Preston RR, Lig K, Wallen-Friedman MA, Saimi Y, Kung C (1990) Mutations in paramecium calmodulin indicate functional differences between the C-terminal and N-terminal lobes in vitro. Cell 62:165-174
18. Kunkel TA (1993) Slippery DNA and diseases. Nature 365: 207-208
19. Loughlin J, Irven C, Mustafa Z, Briggs MD, Carr A, Lynch S, Knowlton RG, et al (1998) Identification of five novel mutations in the cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia. Hum Mutat Suppl 11:S8-S9
20. Maroteaux P, Stanescu R, Stanescu V, Fontaine G (1980) The mild form of pseudoachondroplasia. Eur J Pediatr 133: 227-231
21. Maynard JA, Cooper RR, Ponseti IV (1972) A unique rough surfaced endoplasmic reticulum inclusion in pseudoachondroplasia. Lab Invest 26:40-44
22. Muragaki Y, Mariman ECM, van Beersum SEC, Perala M, van Mourik JBA, Warman ML, Olsen BR, et al (1996) A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). Nat Genet 12:103-105
23. Newton G, Weremowics S, Morton CC, Copeland NG, Gilbert DJ, Jenkins NA, Lawler J (1994) Characterization of human and mouse cartilage oligomeric matrix protein. Genomics 24:435-439
24. Oehlmann R, Summerville GP, Yeh G, Weaver EJ, Jiminez SA, Knowlton RG (1994) Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19. Am J Hum Genet 54:3-10
25. Oldberg A, Antonsson P, Lindblom K, Heinegard D (1992) COMP (cartilage oligomeric matrix protein) is structurally related to the thrombospondins. J Biol Chem 267: 22346-22350
26. Ribbing S (1937) Studien uber hereditare multiple Epiphysenstorungen. Acta Radiol Suppl 34:1-107
27. Rimoin DL, Rasmussen IM, Briggs MD, Roughly PJ, Gruber HE, Warman ML, Olsen BR, et al (1994) A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate loci that encode proteins of the cartilage extracellular matrix. Hum Genet 93:236-242
28. Stanescu R, Stanescu V, Muriel M-P, Maroteaux P (1993) Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage. Am J Med Genet 45:501-507
29. Stanescu V, Maroteaux P, Stanescu R (1982) The biochemical defect of pseudoachondroplasia. Eur J Pediatr 138:221-225
30. Stanescu V, Stanescu R, Maroteaux P (1977) Etude morphologique et biochimique du cartilage de croissance dans les osteochondrodysplasies. Arch Fr Pediatr Suppl 34:1-80
31. Takigawa M, Tajima K, Pan HO, Enomoto M, Kinoshita A, Suzuki F, Takano Y, et al (1989) Establishment of a clonal human chondrosarcoma cell line with cartilage phenotypes. Cancer Res 49:3996-4002
32. Tsao PW, Mousa SA (1995) Thrombospondin mediates calcium mobilization in fibroblasts via its Arg-Gly-Asp and carboxyl-terminal domains. J Biol Chem 270:23747-23753
33. Tuckwell DS, Ayad S, Grant ME, Takigawa M, Humphries MJ (1994) Conformation dependence of integrin-type II collagen binding. J Cell Sci 107:993-1005