Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia

Human Genetics

Volumn 103, Issue 6, 1998, Pages 633-638

  Ikegawa, Shiro ^a   Ohashi, Hirofumi ^b   Nishimura, Gen ^c   Kim, Kyoung Chang ^b   Sannohe, Akio ^d   Kimizuka, Mamori ^e   Fukushima, Yoshimitsu ^f   Nagai, Toshiro ^g   Nakamura, Yusuke ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^c DOKKYO MEDICAL UNIVERSITY   (Japan)

^d AOMORI PREFECTURAL CENTRAL HOSPITAL   (Japan)

^e National Rehabilitation Center for the Disabled   (Japan)

^f SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g DOKKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CALMODULIN; MATRIX PROTEIN; OLIGOMER;

ACHONDROPLASIA; ARTICLE; BONE DYSPLASIA; CARTILAGE; CLINICAL ARTICLE; EPIPHYSIS; EXON; GENE MUTATION; GENOTYPE; HUMAN; MISSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ACHONDROPLASIA; EXTRACELLULAR MATRIX PROTEINS; GENOTYPE; GLYCOPROTEINS; HUMANS; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 0032420486     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050883     Document Type: Article

References (21)

1. 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
2. Briggs MD, Rasmussen IM, Weber JL, Yuen J, Reinker K, Rimoin DL, Cohn DH (1993) Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19. Genomics 18:656-660
3. Briggs MD, Hoffman SMG, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, Rimoin DL, Lachman RS, Gaines ES, Cekleniak JA, Knowlton RG, Cohn DH (1995) Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nat Genet 10:330-335
4. Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, Paepe A De, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH (1998) Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. Am J Hum Genet 62:311-319
5. DiCesare PE, Morgelin M, Mann K, Paulsson M (1994) Cartilage oligomeric matrix protein and thrombospondin I. Purification from articular cartilage, electron microscopic structure, and chondrocyte binding. Eur J Biochem 223:927-937
6. Fairbank HAT (1947) Dysplasia epiphysealis multiplex. Br J Surg 135:225-232
7. Hall JE, Dorst JP (1969) Pseudoachondroplastic SED, recessive Maroteaux-Lamy type. The clinical delineation of birth defects. Birth Defects 5:242-257
8. Hall JG, Dorst JP, Rotta J, McKusick VA (1987) Gonadal mosaicism in pseudoachondroplasia. Am J Med Genet 28:143-151
9. Hecht JT, Francomano CA, Briggs MD, Deere M, Conner B, Horton WA, Warman M, Cohn DH, Blanton SH (1993) Linkage of typical pseudoachondroplasia to chromosome 19. Genomics 18:661-666
10. Hecht JT, Nelson LD, Crowder E, Wang Y, Elder FFB, Harrison WR, Francomano CA, Prange CK, Lennon GG, Deere M, Lawler J (1995) Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. Nat Genet 10:325-329
11. Maroteaux P, Lamy M (1959) Les formes pseudo-achondroplastiques des dysplasies spondylo-epiphysaires. Presse Med 67:383-386
12. Morgelin M, Heinegard D, Engel J, Paulsson M (1992) Electron microscopy of native cartilage oligomeric matrix protein purified from swarm rat chondrosarcoma reveals a five-armed structure. J Biol Chem 267:6137-6141
13. Mumby SM, Raugi CJ, Bornsein P (1984) Interaction of thrombospondin with extracellular matrix proteins: selective binding to type V collagen. J Cell Biol 98:646-652
14. Muragaki Y, Mariman ECM, Beersum SEC van, Perala M, Mourik JBA van, Warman ML, Olsen BR, Hamel BCJ (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
15. Newton G, Weremowicz 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
16. Ribbing S (1955) The hereditary multiple epiphyseal disturbance and its consequences for the aetiogenesis of local malacias: particularly the osteochondrosis dissecans. Acta Orthop Scand 24:286-299
17. Spranger J (1988) Bone dysplasia families. Pathol Immunopathol Res 7:76-80
18. Stanescu V, Maroteaux P, Stanescu R (1982) The biochemical defect of pseudoachondroplasia. Eur J Pediatr 138:221-225
19. Susie S, McGrory J, Ahier J, Cole WG (1997) Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein. Clin Genet 51:219-224
20. Takagi J, Fujisawa T, Usui T, Aoyama T, Saito Y (1993) A single chain 19-kDa fragment of bovine thrombospondin binds to type V collagen andheparin. J Biol Chem 268:15544-15549
21. Wynne-Davies R, Hall CM, Young ID (1986) Pseudoachondroplasia: clinical diagnosis at different ages and comparison of autosomal dominant and recessive types. a review of 32 patients (26 kindreds). J Med Genet 23:425-434