Bone dysplasias in man: Molecular insights

Current Opinion in Genetics and Development

Volumn 6, Issue 3, 1996, Pages 301-308

  Francomano, Clair A ^a   McIntosh, Iain ^b   Wilkin, Douglas J ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 2; FIBROBLAST GROWTH FACTOR RECEPTOR; MATRIX PROTEIN;

ALLELE; BONE DYSPLASIA; CARTILAGE MATRIX; GENE LOCATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; MEDICAL GENETICS; MOLECULAR GENETICS; PRIORITY JOURNAL; REVIEW;

EID: 0029900307     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-437X(96)80006-2     Document Type: Article

References (57)

1. Hecht JT, Nelson LD, Crowder E, Wang Y, Elder FFB, Harrison WR, Francomano CA, Prange CK, Lennon GG, Deere M, Lawler J: Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. Nat Genet 1995, 10:325-329. This paper (and [2••]) describes the first COMP mutations found in PSACH. Using the candidate gene approach, the authors identified mutations in eight familial and isolated PSACH cases, all in exon 17B (corresponding to exon 13 of [2••]). Six of the mutations delete or change a well- conserved aspartic acid residue within the calcium binding repeats.
2. Briggs MD, Hoffman SMG, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, Rimoin DL, Lachman RS, Gaines ES et al.: Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nat Genet 1995, 10:330-336. This paper (and [1••]) describes the first COMP mutations identified in PSACH, as well as the first MED mutations in COMP, demonstrating that PSACH and some forms of MED are allelic. The mutations identified, as with those described in [1••], are in the calcium binding domain.
3. Warman ML, Abbott M, Apte SS, Hefferon TW, McIntosh I, Cohn DH, Hecht JT, Olsen BR, Francomano CA: A mutation in the human type X collagen gene in a family with Schmid metaphyseal chondrodysplasia. Nat Genet 1993, 5:79-82.
4. Schipani E, Krusw K, Jüppner H: A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 1995, 268:98-100. The authors describe a mutation in the parathyroid hormone-parathyroid hormone-related peptide receptor in a patient with Jansen-type metaphyseal dysplasia. The authors suggest that their findings explain the abnormal formation of endochondral bone in this rare short-limbed dwarfism.
5. Hästbacka J, De la Chapelle A, Mahtani MM, Clines G, Reeve-Daly MP, Daly M, Hamilton BA, Kusumi K, Trivedi B, Weaver A et al.: The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 1994, 78:1073-1087. A fascinating paper describing the identification of a novel sulfate transporter gene and the identification of mutations in this gene in individuals with DTD. The authors use linkage disequilibrium mapping to identify the gene, capitalizing on the high carrier frequency in the Finnish population.
6. Hästbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES: Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Am J Hum Genet 1996, 58:255-262. The authors identify the first mutations in AO II, also in the DTDST gene, adding this phenotype to the list of diseases that result from DTDST mutations.
7. Superti-Furga A, Hastbacka J, Wilcox WR, Cohn DH, Van der Harten HJ, Rossi A, Blau N, Rimoin DL, Steinman B, Lander ES, Gitzelmann R: Achrondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet 1996, 12:100-102. This paper completes (to date) the list of phenotypes caused by mutations in the DTDST gene. ACG IB is the most severe of the three disorders due to DTDST mutations and extends the phenotypic spectrum of disease at this locus.
8. Winterpacht A, Hilbert M, Schwarze U, Mundlos S, Spranger J, Zabel BU: Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect Nat Genet 1993, 3:323-326.
9. Tiller GT, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR: Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. Nat Genet 1995, 11:87-89. This paper identifies COL2A1 mutations in the Strudwick type of SEMD and adds this phenotype to the list of type II collagen disorders. This phenotype includes dappled metaphyses, which are not seen in SED.
10. Vikkula M, Mariman ECM, Lui VCH, Zhidkova NI, Tiller GE, Goldring MB, Van Beersum SEC, De Waal Malefijt MC, Van den Hoogen FHJ, Ropers HH: Autosomal dominant and recessive osteochondrodysplaslas associated with the COL11A2 locus. Cell 1995, 80:431-437 This paper identifies COL11A2 mutations in a Stickler syndrome (dominant) family and OSMED (recessive) family. These are the first two phenotypes found to result from mutations in type XI collagen. The observations reported here establish COL11A2 as a second locus causing Stickler syndrome. The authors propose a molecular mechanism for differences in the ocular phenotype between Stickler syndrome caused by COL2A1 mutations, and those caused by COL11A2.
11. Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW: Fibroblast growth receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet 1995, 11:462-464. The authors identify mutations in FGFR3 in a disease outside the achondroplasia spectrum (including thanatophoric dysplasia and hypochondroplasia), demonstrating locus heterogeneity in Crouzon syndrome and expanding the phenotypic spectrum resulting from mutations in FGFR3.
12. Muenke M: Finding genes involved in human developmental disorders. Curr Opin Genet Dev 1995, 5:354-361. See annotation [14••].
13. Park WJ, Bellus GA, Jabs EW: Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development Am J Hum Genet 1995, 57:748-745. See annotation [14••].
14. Winter RM: Recent molecular advances in dysmorphology. Hum Mol Genet 1995, 4:1699-1704. Together with [12••] and [13••], this review provides an excellent description of recent findings of human developmental disorders, including phenotypes resulting from mutations in the FGFRs.
15. Byers PH: Osteogenesis imperfecta. In Connective Tissue and its Heritable Disorders. Edited by Royce PM, Steinmann B. New York: Wiley-Liss; 1993:317-350.
16. DePaepe A: Ehlers-Danlos syndrome type IV. Clinical and molecular aspects and guidelines for diagnosis and management. Dermatology 1994, 189:21-25.
17. Byers PH: Ehlers-Danlos syndrome: recent advances and current understanding of clinical and genetic heterogeneity. J Invest Dermatol 1994, 103:47S-52S.
18. Thomas JT, Cresswell CJ, Rash B, Nicolai H, Jones T, Solomon E, Grant ME, Boot-Handford RP: The human collagen X gene. Complete primary translated sequence and chromosomal localization. Biochem J 1991, 280:617-623.
19. Lachman RS, Rimoin DL, Spranger J: Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature. Pediatr Radiol 1988, 18:93-102.
20. McIntosh I, Abbot MH, Warman ML, Olsen BR, Francomano CA: Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. Hum Mol Genet 1994, 3:303-307. See annotation [22•].
21. Wallis GA, Rash B, Sweetman WA, Thomas JT, Super M, Evans G, Grant ME, Boot-Handford RP: Amino acid substitutions of conserved residues in the carboxy-terminal domain of the alpha-I(X) chain of type X collagen occur in two unrelated families with metaphyseal dysplasia type Schmid. Am J Hum Genet 1994, 54:169-178. See annotation [22•].
22. McIntosh I, Abbot MH, Francomano CA: Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen. Hum Mutat 1995, 5:121-125. Here we identified additional COL10A1 mutations which result in the Schmid phenotype. Along with those described in [20•,21•], all of the mutations are in the NC1 domain of the protein, suggesting that the mutant chains cannot participate in chain association and trimer formation.
23. Wallis GA, Rash B, Sykes B, Bonaventure J, Maroteaux P, Zabel B, Wynne-Davis R, Grant ME, Boot-Handford RP: Mutations within the gene encoding the α1(X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia. J Med Genet 1996, in press.
24. Chan D, Cole WG, Rogers JG, Bateman JF: Type X collagen multimer assembly in vitro is prevented by a gly618 to val mutation in the α1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia. J Biol Chem 1995, 270:4558-4562.
25. Rosati R, Horan GSB, Pinero GJ, Garofalo S, Keene DR, Horton WA, Vuorio E, De Crombrugghe B, Behringer RR: Normal long bone growth and development in type X collagen-null mice. Nat Genet 1994 8:129-135.
26. Spranger J, Winterpacht A, Zabel B: The type II collagenopathies: a spectrum of chondrodysplasias. Eur J Pediatr 1994, 153:56-65. The most recent review of type II collagen phenotypes, describing both radiographic and molecular features of these disorders. This was the first review to analyze the relationship between genotype and phenotype in the type II collagenopathies.
27. Stickler GB, Belau PG, Farrell FJ, Jones JD, Pugh DG, Steinberg AG, Ward LE: Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc 1965, 40:433-455.
28. Ahmad NN, Ala-Kokko L, Knowlton RG, Jimenez SA, Weaver EJ, Maguire JI, Tasman W, Prockop DJ: Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci USA 1991, 88:6624-6627.
29. Ahmad NN, McDonald-McGinn DM, Zackai EH, Knowlton RG, LaRossa D, DiMascio J, Prockop DJ: A second mutation in the type II procollagen gene (COL2A1) causing Stickler syndrome is also a premature termination codon. Am J Hum Genet 1993, 52:39-45.
30. Ritvaniemi P, Hyland J, Ignatius J, Kivirikko KI, Prockop DJ, Ala Kokko L: A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis. Genomics 1993, 17:218-221.
31. Brown D M, Nichols BE, Weingeist TA, Sheffield VC, Kimura AE, Stone EM: Procollagen II gene mutation in Stickler syndrome. Arch Ophthalmol 1992, 110:1589-1593.
32. Brown DM, Vandenburgh K, Kimura AE, Weingeist TA, Sheffield VC, Stone EM: Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy). Hum Mol Genet 1995, 4:141-142.
33. Knowlton RG, Weaver EJ, Struyk AF, Knobloch WH, King RA, Norris K, Shamban A, Uitto J, Jimenez SA, Prockop DJ: Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene. Am J Hum Genet 1989, 45:681-688.
34. Vintiner GM, Temple K, Middleton-Price HR, Baraitser M, Malcolm S: Genetic and clinical heterogeneity of Stickler syndrome. Am J Med Genet 1991, 41:44-48.
35. Bonaventure J, Philippe C, Plessis G, Vigneron J, Lasselin C, Maroteaux P, Gilgenkrantz S: Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene. Hum Genet 1992, 90:164-168.
36. Brunner HG, Van Beersum SEC, Warman ML, Olsen BR, Ropers HH, Manman ECM: A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. Hum Mol Genet 1994, 3:1561-1564. Describes linkage of Stickler syndrome in a large Dutch family to a region of chromosome 6 containing one of the genes for type XI collagen. This established the map location of a second Stickler syndrome locus and paved the way for the identification of the mutation (see [10••]).
37. Snead MP, Payne SJ, Barton DE, Yates JRW, Al-Imara L, Pope FM, Scott JD: Stickler syndrome: correlation between vitro-retinal phenotypes and linkage to Col2A1. Eye 1994, 8:609-614. This paper discusses the relationship between Stickler syndrome families linked to COL2A1 and those not linked to COL2A1. The authors suggest that the early onset high myopia found in the majority of Stickler families is found only in families linked (or with genetics consistent with linkage) to COL2A1.
38. Mayne R, Brewton RG, Mayne PM, Baker JR: Isolation and characterization of the chains of type V/typeXI collagen present in bovine vitreous. J Biol Chem 1993, 268:9381-9386.
39. Bogaert R, Wilkin D, Wilcox WR, Lachman R, Rimoin DL, Cohn DH, Eyre DR: Expression in cartilage of a 7-amino acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia. Am J Hum Genet 1994, 55:1128-1136. See annotation [40•].
40. Wilkin DJ, Bogaert R, Lachman R, Rimoin DL, Eyre DR, Cohn DH: Single amino acid substitutions (glycine 103 to aspartate) in the type II collagen triple helix can produce Kniest dysplasia. Hum Mol Genet 1994, 3:1999-2003.
41. Winterpacht A, Schwarze U, Mundlos S, Menger H, Spranger J, Zabel B: Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia. Hum Mol Genet 1994, 3:1891-1893.
42. Hästbacka J, Kaitila I, Sistonen P, De la Chapelle A: Diastrophic dysplasia gene maps to the distal long arm of chromosome 5. Proc Nat Acad Sci USA 1990, 87:8056-8059.
43. Superti-Furga A: A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. Am J Hum Genet 1994, 55:1137-1145.
44. Stanescu R, Stanescu V, Muriel MP, Maroteaux P: Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage. Am J Med Genet 1993, 45:501-507.
45. Hedbom, E, Antonsson P, Hjerpe A, Aeschlimann D, Paulsson M, Rosa-Pimentel E, Sommarin Y, Wendel M, Oldberg A, Heinegard D: Cartilage matrix proteins. An acidic oligomeric protein (COMP) detected only in cartilage. J Biol Chem 1992, 267:6132-6136.
46. Newton G, Weremowicz S, Morton CC, Copeland NG, Gilbert DJ, Jenkins NA, Lawler J: Characterization of human and mouse cartilage oligomeric matrix protein. Genomics 1994, 24:435-439.
47. Briggs MD, Rasmussen IM, Weber JL, Yuen J, Reinker K, Garber AP, Rimoin DL, Cohn DH: Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentric region of chromosome 19. Genomics 1993, 18:656-660.
48. Hecht JT, Francomano CA, Briggs MD, Deere M, Conner B, Horton WA, Warman M, Cohn DH, Blanton SH: Linkage of typical pseudoachondroplasia to chromosome 19. Genomics 1993, 18:661-666.
49. Oehlman R, Summerville GP, Yeh G, Weaver EJ, Jimenez SA, Knowlton RG: Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19. Am J Hum Genet 1994, 54:3-10. Together with [47] and [48], this paper maps PSACH and MED to chromosome 19. When the cartilage protein COMP was mapped to the same region on chromosome 19, this led to the identification of specific mutations that result in the disease phenotype (see [1••] and [2••]).
50. Loughlin J, Irven C, Mustafa Z, Briggs MD, Carr A, Lynch SA, Knowlton RG, Cohn DH, Sykes B: Identification of five novel mutations in the cartilage oligomatrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia. Hum Mutat 1996, in press.
51. Briggs MD, Choi H, Warman ML, Loughlin JA, Wordsworth P, Sykes BC, Irven CMM, Smith M, Wynne-Davies R, Lipson MH et al.: 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 1994, 55:678-684. Describes the linkage of a form of MED to a region containing COL9A2-obviously a very good candidate gene for this phenotype - leading to the confirmation of the gene by the identification of the mutation in [52••].
52. Muragaki Y, Mariman ECM, Van Beersum SEC, Perala M, Van Mourik JBA, Warman ML, Olsen BR, Hamel BCJ: A mutation in the gene encoding the alphs-2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2). Nat Genet 1996, 12:103-105. First identification of a mutation in a type IX collagen gene, gaining insight into how mutations in this protein, which is tightly associated with collagen types II and XI, can lead to specific phenotypes.
53. Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA et al.: A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for Warfarin embryopathy. Cell 1995, 81:15-25. The authors describe the identification of three genes with homology to the sulfatase family of genes in Xp22.3, the region where the CDPX gene has been assigned. Point mutations have been identified in one of the genes, arylsulfatase E, in five patients with CDPX.
54. Loughlin J, Irven C, Hardwick LJ, Butcher S, Walsh S, Wordsworth P, Sykes B: Linkage of the gene that encodes the alpha-1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDSII). Hum Mol Genet 1995, 4:1649-1651.
55. Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanovic M, Weissenbach J, Mansour S, Young ID, Goodfellow PN et al.: Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 1994, 372:525-530. In this innovative paper, the authors describe the cloning of a translocation chromosome breakpoint from a sex-reversed patient with campomelic dysplasia, resulting in the recognition of SOX9, a SRY-related gene, as the cause of this condition.
56. Thomas JT, Lin K, Nandedkar M, Camargo M, Cervenka J, Luyten FP: A human chondrodysplasia due to a mutation in a TGF-β superfamily member. Nat Genet 1996, 12:315-317. The authors describe a mutation in CDMP-1, a cartilage derived morphogenetic protein closely related to the subfamily of bone morphogenetic proteins, in a family with the recessive acromesomelic chondrodysplasia, Hunter-Thompson type.
57. Nicholls AC, McCarron S, Narcisi P, Pope FM: Molecular abnormalities of type V collagen in Ehlers-Danlos syndrome. Am J Hum Genet 1994, 55:A233.