Genetic and orthopedic aspects of collagen disorders

Current Opinion in Pediatrics

Volumn 21, Issue 1, 2009, Pages 46-54

  Carter, Erin M ^a   Raggio, Cathleen L ^a  

^a HOSPITAL FOR SPECIAL SURGERY   (United States)

Author keywords

Cartilage; Collagen; Skeletal dysplasia

Indexed keywords

COLLAGEN TYPE 10; COLLAGEN TYPE 11; COLLAGEN TYPE 2;

ACHONDROGENESIS TYPE II; ARTICULAR CARTILAGE; BONE DYSPLASIA; CARTILAGE; COLLAGEN DEFECT; COLLAGEN DISEASE; COLLAGEN METABOLISM; CZECH DYSPLASIA; GENE MUTATION; GENETIC COUNSELING; HYPOCHONDROGENESIS; MARSHALL SYNDROME; MULTIPLE EPIPHYSEAL DYSPLASIA TYPE II; PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STRUCTURE; REVIEW; SPONDYLOEPIMETAPHYSEAL DYSPLASIA; SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SPONDYLOPERIPHERAL DYSPLASIA; STICKLER SYNDROME; SYNDROME OSMED;

ACHONDROPLASIA; ANIMALS; CARTILAGE, ARTICULAR; COLLAGEN DISEASES; COLLAGEN TYPE II; COLLAGEN TYPE IX; COLLAGEN TYPE XI; DISEASE MODELS, ANIMAL; GENETIC COUNSELING; HUMANS; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; JOINT DISEASES; MUTATION;

EID: 62849120016     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/MOP.0b013e32832185c5     Document Type: Review

References (80)

1. Bateman JF, Lamandé SR, Lamshaw JAM. Collagen superfamily [chapter 2]. In: Comper WD, editor. Extracellular matrix, vol. 2. Amsterdam: Overseas Publishers Association; 1996. pp. 22-67.
2. Söderhäll C, Marenholz I, Kerscher T, et al. Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitis. PLoS Biol 2007;5:e242.
3. Hall CM. International nosology and classification of constitutional disorders of bone. Am J Med Genet 2002;113:65-77.
4. Orioli IM, Castilla EE, Barbosa-Neto JG. The birth prevalence rates for the skeletal dysplasias. J Med Genet 1986;23:328-332.
5. Di Lullo GA, Sweeney SM, Korkko J, et al. Mapping the ligand-binding sites and disease-associated mutations on the most abundant protein in the human, type I collagen. J Biol Chem 2002;277:4223-4231.
6. Kielty CM, Hopkinson I, Grant ME. The collagen family: structure, assembly, and organization in the extracellular matrix. In: Royce PM, Steinmann B, editors. Connective tissue and its heritable disorders: molecular, genetic, and medical aspects. New York: Wiley-Liss, Inc; 2002. pp. 103-149.
7. Online Mendelian Inheritance in Man. National Center for Biotechnology Information, http://www.ncbi.nlm.nih.gov/omim/.
8. Yamauchi M.; Collagen biochemistry: an overview [chapter 25] Advances in tissue banking, vol. 6. Phillips GO, editor. Singapore: World Scientific Publishing Co; 2002. pp. 445-500.
9. Boot-Handford RP, Tuckwell DS. Fibrillar collagen: the key to vertebrate evolution? A tale of molecular incest. Bioessays 2003;25:142-151.
10. Exposito JY, Cluzel C, Garrone R, Lethias C. Evolution of collagens. Anat Rec 2002;268:302-316.
11. Shaw LM, Olsen BR. FACIT collagens: diverse molecular bridges in extra-cellular matrices. Trends Biochem Sci 1991;16:191-194.
12. Online Mendelian Inheritance in Man gene maps. National Center for Biotechnology Information. http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi.
13. Eyre DR. Collagen of articular cartilage. Arthritis Res 2002;4:30-35.
14. Blaschke UK, Eikenberry EF, Hulmes DJ, et al. Collagen XI nucleates self-assembly and limits lateral growth of cartilage fibrils. J Biol Chem 2000;275:10370-10378.
15. Harris WH. Etiology of osteoarthritis of the hip. Clin Orthop Relat Res 1986;213:20-33.
16. Anderson IJ, Goldberg RB, Marion RW, et al. Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2A1). Am J Hum Genet 1990;46:896-901.
17. Pace JM, Li Y, Seegmiller RE, et al. Disproportionate micromelia (Dmm) in mice caused by a muation in the C-propeptide coding region of Col2a1. Dev Dyn 1997;208:25-33.
18. Seegmiller RE, Bomsta BD, Bridgewater LC, et al. The heterozygous disproportionate micromelia (dmm) mouse: morphological changes in fetal cartilage precede postnatal dwarfism and compared with lethal homozygotes can explain the mild phenotype. J Histochem Cytochem 2008;6:1003-1011.
19. Nieminen J, Sahlman J, Hirvonen T, et al. Disturbed synthesis of type II collagen interferes with rate of bone formation and growth and increases bone resorption in transgenic mice. Calcif Tissue Int 2008;82:229-237.
20. Achondrogenesis, type II [chapter 4]. In: Spranger JW, Brill PW, Poznanski A, editors. 'Bone dysplasias: an atlas of genetic disorders of skeletal development'. 2nd ed. New York: Oxford University Press, Inc; 2002. pp. 11-12.
21. Chan D, Cole WG, Chow CW, et al. A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage. J Biol Chem 1995;270:1747-1753.
22. Godfrey M, Hollister DW. Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen. Am J Hum Genet 1988;43:904-913.
23. Norton WA, Machado MA, Ellard J, et al. Characterization of a type II collagen GENE (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis. Proc Natl Acad Sci U S A 1992;89:4583-4587.
24. Bogaert R, Tiller GE, Weis MA, et al. An amino acid substitution (gly853-to-glu) in the collagen alpha-1 (II) chain produces hypochondrogenesis. J Biol Chem 1992;267:22522-22526.
25. Dertinger S, Söeder S, Bösch H, Aigner T. Matrix composition of cartilaginous anlagen in achondrogenesis type II (Langer-Saldino). Front Biosci 2005;10:446-453.
26. Norton WA, Rimoin DL, Holister DW, Lachman RS. Further heterogeneity within lethal neonatal short-limbed dwarfism: the platyspondylic types. J Pediatr 1979;694:736-742.
27. Zankl A, Neumann L, Ignatius J, et al. Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torranee type, and define a novel subfamily within the type 2 collagenopathies. Am J Med Genet A 2005;133A:61-67.
28. Platyspondylic chondrodysplasia, Torrance Type [chapter 13]. In: Spranger JW, Brill PW, Poznanski A, editors. Bone dysplasias: an atlas of genetic disorders of skeletal development. 2nd ed. New York: Oxford University Press; 2002. pp. 30-33.
29. Omran H, Uhl M, Brandis M, Wolff G. Survival and dominant transmission of 'lethal' platyspondylic dwarfism of the 'West coast' types. J Pediatr 2000;136:411-413.
30. Neumann L, Kunze J, Uhl M, et al. Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Tonrance-Luton type. Pediatr Radiol 2003;33:786-790.
31. Nishimura G, Nakashima E, Mabuchi A, et al. Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. J Med Genet 2004;41:75-79.
32. Zankl A, Neumann L, lgnatius J, et al. Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torranee type, and define a novel subfamily within the type 2 collagenopathies. Am J Med Genet 2005;133A:61-67.
33. Spondyloepiphyseal dysplasia congenital [chapter 44]. In: Spranger JW, Brill PW, Poznanski A, editors. Bone dysplasias: an atlas of genetic disorders of skeletal development. 2nd ed. New York: Oxford University Press; 2002. pp. 160-167.
34. Baitner AC, Maurer SG, Gruen MB, Di Cesare PE. The genetic basis of the osteochondrodysplasias. J Pediatr Orthop 2000;20:594-605.
35. Lee B, Vissing H, Ramirez F, et al. Identification of the molecular defect in a family with Spondyloepiphyseal dysplasia. Science 1989;244:978-980.
36. Tiller GE, Polumbo PA, Weis MA, et al. Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. Nat Genet 1995;11:87-89.
37. Winterpacht A, Hilbert M, Schwarze U, et al. Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect. Nat Genet 1993;3:323-326.
38. Kniest dysplasia [chapter 43]. In: Spranger JW, Brill PW, Poznanski A, editors. Bone dysplasias: an atlas of genetic disorders of skeletal development. 2nd ed. New York: Oxford University Press; 2002. pp. 155-159.
39. Horton WA, Rimoin DL Kniest dysplasia. A histochemical study of the growth plate. Pediatr Res 1970;13:1266-1270.
40. Rimoin DL, Hollister DW, Silberberg R, et al. Kniest (Swiss cheese cartilage) syndrome: clinical, radiographic, histologic, and ultrastructural studies. Clin Res 1973;21:296A.
41. Cole WG. Abnormal skeletal growth in Kniest dysplasia caused by type II collagen mutations. Clin Orthop Relat Res 1997;341:162-169.
42. Wilkin DJ, Artz AS, South S, et al. Small deletions in the type II collagen triple helix produce Kniest dysplasia. Am J Med Genet 1999;85:105-112.
43. Marik I, Marikova O, Zemkova D, et al. Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes. Skeletal Radiol 2004;33:157-164.
44. Kozlowski K, Marik I, Marikova O, et al. Czech dysplasia metatarsal type. Am J Med Genet 2004;129A:87-91.
45. Tzschach A, Tinschert S, Kaminsky E, et al. Czech dysplasia: report of a large family and delineation of phenotype. Am J Med Genet 2008;146A:1859-1864.
46. Hoornaert KP, Marik I, Kozlowski K, et al. Czech dysplasia metatarsal type: another type II collagen disorder. Eur J Hum Genet 2007;15:1269-1275.
47. Stickler GB, Belau PG, Farrell FJ, et al. Hereditary progressive arthroopthalmopathy. Mayo Clin Proc 1965;40:433-455.
48. Stickler dysplasia [chapter 46]. In: Spranger JW, Brill PW, Poznanski A, editors. Bone dysplasias: an atlas of genetic disorders of skeletal development. 2nd ed. New York: Oxford University Press; 2002. pp. 170-174.
49. Francomano CA, Liberfarb RM, Hirose T, et al. The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen. Genomics 1987;1:293-296.
50. Ahmad NN, Dimascio J, Knowlton RG, Tasman WS. Stickler syndrome: a mutation in the nonhelical 3-prime end of type II procollagen gene. Arch Ophthalmol 1995;113:1454-1457.
51. Brown DM, Nichols BE, Weingeist TA, et al. Procollagen II gene mutation in Stickler syndrome. Arch Ophthalmol 1992;110:1589-1593.
52. Ahmad NN, McDonald-McGinn DM, Zackai EH, et al. A second mutation in the type Il procollagen gene (COL2A1) causing Stickler syndrome (arthroophthalmopathy) is also a premature termination codon. Am J Hum Genet 1993;52:39-45.
53. Ritvaniemi P, Hyland J, Ignatius J, et al. 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.
54. Oto-spondylo-megaepiphyseal dysplasia [chapter 47]. In: Spranger JW, Brill PW, Poznanski A, editors. Bone dysplasias: an atlas of genetic disorders of skeletal development. 2nd ed. New York: Oxford University Press; 2002. pp. 175-178.
55. Miyamoto Y, Nakashima E, Hiraoka H, et al. A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia. Hum Genet 2005;118:175-178.
56. Kelly TE, Lichtenstein JR, Dorst JP. An unusual familial spondyloepiphyseal dysplasia: 'spondyloperipheral dysplasia'. Birth Defects Orig Artic Ser 1977;13:149-165.
57. Zabel B, Hubert K, Stoss H, et al. A specific collagen type II gene (COL2A1 ) mutation presenting as spondyloperipheral dysplasia. Am J Med Genet 1996;63:123-128.
58. Zankl A, Zabel B, Hilbert K, et al. Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. Am J Med Genet 2004;129A:144-148.
59. Olsen BR. Collagen IX. Int J Biochem Cell Biol 1997;29:555-558.
60. Dreier R, Opolka A, Grifka J, et al. Collagen IX-deficiency seriously compromises growth cartilage development in mice. Matrix Biol 2008;27:319-329.
61. Boyd LM, Richardson WJ, Allen KD, et al. Early-onset degeneration of the intervertebral disc and vertebral end plate in mice deficient in type IX collagen. Arthritis Rheum 2008;58:164-171.
62. Fässler R, Schnegelsberg PNJ, Dausman J, et al. Proc Natl Acad Sci U S A 1994;91:5070-5074.
63. Multiple epiphyseal dysplasia [chapter 41]. In: Spranger JW, Brill PW, Poznanski A, editors. Bone dysplasias: an atlas of genetic disorders of skeletal development. 2nd ed. New York: Oxford University Press; 2002. pp. 141-146.
64. Unger S, Hecht JT. Pseudoachondroplasia and multiple epiphyseal dysplasia: new etiologic developments. Am J Med Genet 2001;106:244-250.
65. Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat 2002;19:465-478.
66. Zankl A, Jackson GC, Crettol LM, et al. Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. Eur J Hum Genet 2007;15:150-154.
67. Eyre DR, Wu JJ. Type XI of 1α2α3α collagen. In: Mayne R, Burgeson RE, editors. Structure and function of collagen types. New York: Academic Press; 1987. pp. 261-287.
68. Li Y, Lacerda DA, Warman ML, et al. A fibrillar collagen gene, Col1 1a1, is essential for skeletal morphogenesis. Cell 1995;80:423-430.
69. Fernandes RJ, Weis M, Scott MA, et al. Collagen XI chain misassembly in cartilage of the chondrodysplasia (cho) mouse. Matrix Biol 2007;26:597-603.
70. Li SW, Takanosu M, Arita M, et al. Targeted disruption of Col11 a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospodylomegaepiphyseal dysplasia (OSMED). Dev Dyn 2001;222:141-152.
71. Marshall D. Ectodermal dysplasia; report of kindred with ocular abnormalities and hearing defect. Am J Ophthalmol 1958;45 (4 Part 2):143-156.
72. Griffith AJ, Sprunger LK, Sirko-Osadsa DA, et al. Marshall syndrome associated with a splicing defect at the COL11A1 locus. Am J Hum Genet 1998;62:816-823.
73. Annunen S, Körkkö J, Czarny M, et al. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause over-lapping Marshall/Stickler phenotypes. Am J Hum Genet 1999;65:974-983.
74. van Steensel MA, Buma P, de Waal Malefijt MC, et al. Oto- spondylomegaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene. Am J Med Genet 1997;70:315-323.
75. Vikkula M, Mariman EC, Lui VC, et al. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 1995;80:431-437.
76. Melkoniemi M, Brunner HG, Manouvrier S, et al. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. Am J Hum Genet 2000;66:368-377.
77. Kelly TE, Wells HH, Tuck KB. The Weissenbacher-Zweymüller syndrome: possible neonatal expression of the Stickler syndrome. Am J Med Genet 1982;11:113-119.
78. Ayme S, Preus M. The Marshall and Stickler syndromes: objective rejection of lumping. J Med Genet 1984;21:34-38.
79. Chemke J, Carmi R, Galil A, et al. Weissenbacher-Zweymuller syndrome: a distinct autosomal recessive skeletal dysplasia. Am J Med Genet 1992;43:989-995.
80. Pihlajamaa T, Prockop DJ, Faber J, et al. Heterozugous glycine substitution in the Col1 1A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome. Am J Med Genet 1998;80:115-120.