The type II collagenopathies: A spectrum of chondrodysplasias

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Heritable Diseases of Collagen

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Mutations in collagen genes: causes of rare and some common diseases in humans

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Hereditary Progressive Arthro-Ophthalmopathy

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Birth Defects Encyclopedia

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Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

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Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.

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A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

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Identification of the Molecular Defect in a Family with Spondyloepiphyseal Dysplasia

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Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition

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Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha 1(IX) collagen chains with a central deletion.

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Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

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Genetic Linkage of a Polymorphism in the Type II Procollagen Gene (COL2A1) to Primary Osteoarthritis Associated with Mild Chondrodysplasia

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PREDISPOSITION TO FAMILIAL OSTEOARTHROSIS LINKED TO TYPE II COLLAGEN GENE

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Glycine to serine substitution in the triple helical domain of pro-α 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism

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Reduced amounts of cartilage collagen fibrils and growth plate anomalies in transgenic mice harboring a glycine-to-cysteine mutation in the mouse type II procollagen alpha 1-chain gene.

Garofalo, S., VUORIO, E. I., Metsäranta, M., Rosati, R., Toman, D., Vaughan, J. E., Lozano, G., Mayne, R., Ellard, J., & Horton, W. A. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.21.9648 · Cited by 138

Expression of a partially deleted gene of human type II procollagen (COL2A1) in transgenic mice produces a chondrodysplasia.

Vandenberg, P., Khillan, J. S., Prockop, D. J., Helminen, H. J., Kontusaari, S., & Ala‐Kokko, L. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.17.7640 · Cited by 131

Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasia.

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Mutations in Collagen Genes as a Cause of Connective-Tissue Diseases

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Chondrodysplasia in transgenic mice harboring a 15-amino acid deletion in the triple helical domain of pro alpha 1(II) collagen chain.

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International classification of osteochondrodysplasias

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The Stickler syndrome (hereditary arthroophthalmopathy).

Herrmann, J., France, T. D., Spranger, J. W., Opitz, J., & Wiffler, C. (1975) · PubMed · Cited by 110

A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon.

Ahmad, N. N., McDonald‐McGinn, D. M., Zackai, E. H., Knowlton, R. G., LaRossa, D., Dimascio, J., & Prockop, D. J. (1993) · PubMed · Cited by 109

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.

Wallis, G. A., Starman, B. J., Zinn, A. B., & Byers, P. H. (1990) · PubMed · Cited by 100

Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia

Chan, D. T.-M., Taylor, T. K. F., & Cole, W. G. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)82461-9 · Cited by 100

Procollagen II Gene Mutation in Stickler Syndrome

Brown, D. M. (1992) · Archives of Ophthalmology · doi:10.1001/archopht.1992.01080230089027 · Cited by 91

Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.

Horton, W. A., Machado, M. A., Ellard, J., et al. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.10.4583 · Cited by 86

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

Ritvaniemi, P., Hyland, J. C., Ignatius, J., Kivirikko, K. I., Prockop, D. J., & Ala‐Kokko, L. (1993) · Genomics · doi:10.1006/geno.1993.1306 · Cited by 83

Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)

Körkkö, J., Ritvaniemi, P., Haataja, L., Kääriäinen, H. A., Kivirikko, K. I., Prockop, D. J., & Ala‐Kokko, L. (1993) · PubMed · Cited by 80

An amino acid substitution (Gly853–>Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis.

Bogaert, R., Tiller, G. E., Weis, M., Gruber, H. E., Rimoin, D. L., Cohn, D. H., & Eyre, D. R. (1992) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)41703-6 · Cited by 75

Bone Dysplasia ‘Families’

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The Wagner-Stickler syndrome: A study of 22 families

Liberfarb, R. M., Hirose, T., & Holmes, L. B. (1981) · The Journal of Pediatrics · doi:10.1016/s0022-3476(81)80324-1 · Cited by 71

Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia

Chan, D. T.-M., & Cole, W. G. (1991) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)98925-8 · Cited by 68

Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.

Fryer, A. E., Upadhyaya, M., Littler, M., Bacon, P., Watkins, D., Tsipouras, P., & Harper, P. S. (1990) · Journal of Medical Genetics · doi:10.1136/jmg.27.2.91 · Cited by 60

Oto-spondylo-megaepiphyseal dysplasia (OSMED).

Giedion, A., Brandner, M., Lecannellier, J., Muhar, U., Prader, A., Sulzer, J., & Zweymüller, E. (1982) · PubMed · Cited by 51

News for the practitioner

Spranger, J. W. (1992) · European Journal of Pediatrics · doi:10.1007/bf02072219 · Cited by 48

Spondylometepiphyseal dysplasia, Strudwick type.

Anderson, C., Sillence, D., Lachman, R., Toomey, K., Bull, M., Dorst, J., Rimoin, D., & Opitz, J. M. (1982) · American journal of medical genetics · doi:10.1002/ajmg.1320130304 · Cited by 46

Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias.

Wordsworth, B. P., Ogilvie, D., Priestley, L. M., Smith, R., Wynne-Davies, R., & Sykes, B. C. (1988) · Journal of Medical Genetics · doi:10.1136/jmg.25.8.521 · Cited by 42

Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta

Goldblatt, J., Carman, P. G., & Sprague, P. L. (1991) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320390211 · Cited by 39

Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity

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Clinical and molecular genetics of Stickler syndrome

Snead, M. P., & Yates, J. R. W. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.5.353 · Cited by 448