Hereditary vitreopathy

Eye

Volumn 10, Issue 6, 1996, Pages 653-663

  Snead, M P ^a,b  

^a Addenbrooke's NHS Trust ^*

^b CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN;

CARTILAGE; CATTLE; CONFERENCE PAPER; DISEASE CLASSIFICATION; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HUMAN; MORPHOLOGY; PEDIGREE; PHENOTYPE; STICKLER SYNDROME; VITREOUS DISEASE;

EID: 0030448475     PISSN: 0950222X     EISSN: None     Source Type: Journal    
DOI: 10.1038/eye.1996.158     Document Type: Conference Paper

References (102)

1. Prockop DJ, Kivirikko KI, Tuderman L, Guzman NA. The biosynthesis of collagen and its disorders. N Engl J Med 1979;301:13-23.
2. Prockop DJ, Kivirikko KI, Tuderman L, Guzman NA. The biosynthesis of collagen and its disorders. N Engl J Med 1979;301:77-85.
3. Prockop DJ, Kivirikko KI. Collagens: molecular biology, diseases and potentials for therapy. Annu Rev Biochem 1995;64:403-34.
4. Cheah KSE, Stoker NG, Griffin JR, Grosveld FG, Solomon E. Identification and characterisation of the human type II collagen gene (COL2A1). Proc Natl Acad Sci USA 1985;82:2555-9.
5. Byers PH. Molecular heterogeneity in chondrodysplasias [invited editorial]. Am J Hum Genet 1989;45:1-4.
6. Byers PH. Brittle bones - fragile molecules: disorders of collagen gene structure and expression. TIG 1990; 6:293-300.
7. Andrikopoulos K, Liu X, Keene DR, Jaenisch R, Ramirez F. Targeted mutation in the COL5A2 gene reveals a regulatory role for type V collagen during matrix assembly. Nature Genet 1995;9:31-6.
8. Francomano CA. Key role for a minor collagen. Nature Genet 1995;9:6-8.
9. Kimura T, Cheah KSE, Chan SDH, Lui VCH, Mattei M-G, van der Rest M, et al. The human α2(XI) collagen (COL11A2) chain. J Biol Chem 1989;264:13910-6.
10. Vikkula M, Mariman ECM, Lui VCH, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SEC, et al. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell 1995;80:431-7.
11. Li Y, Lacerda DA, Warman ML, Beier DR, Yoshioka H, Ninomiya Y, et al. A fibrillar collagen gene, COL11A1, is essential for skeletal morphogenesis. Cell 1995;80:423-30.
12. +51VS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita. Am J Hum Genet 1995; 56:388-95.
13. Wagner H. Ein bisher unbekanntes Erbleiden des Auges (Degeneratio hyaloideoretinalis hereditaria), beobachtet im Kanton Zurich. Klin Monatsbl Augenheilkd 1938;100:840-57.
14. Bohringer HR von, Dieterle P, Landolt E. Zur Klinik und Pathologie der Degeneratio hyaloideo-retinalis hereditaria (Wagner). Ophthalmologica 1960; 139:330-8.
15. Brown DM, Graemiger RA, Hergersberg M, Schinzel A, Messmer EP, Niemeyer G, et al. Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14. Arch Ophthalmol 1995; 113:671-5.
16. Marshall D. Ectodermal dysplasia. Am J Ophthalmol 1958;45:143-56.
17. Brown DM, Kimura AE, Weingeist TA, Stone EM. Erosive vitreoretinopathy: a new clinical entity. Ophthalmology 1994;101:694-704.
18. Stickler GB, Belau PG, Farrell FJ, Jones JD, Pugh DG, Steinberg AG, Ward LE. Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc 1965; 40:433-55.
19. Stickler GB, Pugh DG. Hereditary progressive arthroophthalmopathy. II. Additional observations on vertebral abnormalities, a hearing defect, and a report of a similar case. Mayo Clin Proc 1967;42:495-500.
20. Scott JD. Giant tear of the retina. Trans Ophthalmol Soc UK 1975;95:142-4.
21. Cohen MM Jr. The demise of the Marshall syndrome [letter]. J Pediatr 1974;85:878.
22. Baraitser M. Marshall/Stickler syndrome. J Med Genet 1982;19:139-40.
23. Keith CG, Dobbs RH, Shaw DG, Cottrall K. Abnormal facies, myopia and short stature. Arch Dis Child 1972;47:787.
24. Winter RM, Baraitser M, Laurence KM, Donnai D, Hall CM. The Weissenbacher-Zweymuller. Stickler and Marshall syndromes: further evidence for their identity. Am J Med Genet 1983;16:189-99.
25. Ayme S, Preus M. The Marshall and Stickler syndromes: objective rejection of lumping. J Med Genet 1984;21:34-8.
26. Weissenbacher G, Zweymuller E. Coincidental occurrence of Pierre Robin and foetal chondrodysplasia. Monatsschr Kinderheilkd 1964;112:315-7.
27. Haller JO, Berdon WE, Robinow M, Slovis TL, Baker DH, Johnson GF. The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth. AJR 1975;125:936-43.
28. Kelly TE, Wells HH, Tuck KB. The Weissenbacher-Zweymuller syndrome: possible neonatal expression of the Stickler syndrome. Am J Med Genet 1982;11:113-9.
29. Opitz JM, France T, Herrman J, Spranger JW. The Stickler syndrome. N Engl J Med 1972;286:546-7.
30. Hall JG. Stickler syndrome. Birth Defects (Clin Cytogenet Genet) 1974;10:157-71.
31. Schreiner RL, McAlister WH, Marshall RE, Shearer WT. Stickler syndrome in a pedigree of Pierre Robin syndrome. Am J Dis Child 1973;126:86-90.
32. Kniest W. Zur Abgrenzung der Dysostosis enchondralis von der chrondrodystrophie. Z Kinderheilkd 1952;70:633-40.
33. Temple IK. Stickler's syndrome. J Med Genet 1989;26:119-26.
34. Maumenee IH, Traboulsi EI. The ocular findings in Kniest dysplasia. Am J Ophthalmol 1985;100:155-60.
35. Nance WE, Sweeney A. Recessively inherited chondrodysplasia. Birth Defects (Original Article Series) 1970;6:25-7.
36. Cohen MM, Knowblock WH, Gorlin RJ. A dominantly inherited syndrome of hyaloideoretinal degeneration, cleft palate and maxillary hypoplasia. Birth Defects (Original Article Series) 1971;7:83-6.
37. Knobloch WH, Layer JM. Clefting syndromes associated with retinal detachment. Am J Ophthalmol 1979;73:517-30.
38. Billington BM, Leaver PK, McLeod D. Management of retinal detachment in the Wagner-Stickler syndrome. Trans Ophthalmol Soc UK 1985;104:875-9.
39. Liberfarb RM, Hirose T, Holmes LB. The Wagner-Stickler syndrome: a study of 22 families. J Pediatr 1981;99:394-9.
40. Liberfarb RM, Hirose T. The Wagner-Stickler syndrome. Birth Defects (Original Article Series) 1982;18:525-38.
41. Scott JD. Congenital myopia and retinal detachment. Trans Ophthalmol Soc UK 1980;100:69-71.
42. Snead MP, Goodburn SF, Yates JRW, Baguley DM, Murfett HC, Scott JD. Clinical features of type 1 and type 2 Stickler syndrome. In submission.
43. Wang FM, Scott IA, Goldberg RB. Congenital myopia in Stickler's hereditary arthro-ophthalmopathy. Am J Ophthalmol 1990;110:435-6.
44. Scott JD. Prevention and perspective in retinal detachment. Duke-Elder lecture. Eye 1989;3:491-515.
45. Nielson CE. Stickler's syndrome. Acta Ophthalmol (Copenh) 1981;59:286-95.
46. Spallone A. Stickler's syndrome: a study of 12 families. Br J Ophthalmol 1987;71:504-9.
47. Godel V, Lazar M. Wagner's vitreoretinal degeneration with generalised epiphyseal dysplasia. Acta Ophthalmol (Copenh) 1982;60:469-74.
48. Weingeist TA, Hermsen V, Hanson JW, Bumsted RM, Weinstein SL, Olin WH. Ocular and systemic manifestations of Stickler's syndrome: a preliminary report. Birth Defects (Original Article Series) 1982;18:539-60.
49. Blair NP, Albert DM, Liberfarb RM, Hirose T. Hereditary progressive arthro-ophthalmopathy of Stickler. Am J Ophthalmol 1979;88:876-88.
50. Seery CM, Pruett RC, Liberfarb RM, Cohen BZ. Distinctive cataract in the Stickler syndrome. Am J Ophthalmol 1990;110:143-8.
51. Gellis SS, Feingold M, Hermann J, Myers F. The Stickler syndrome (hereditary arthro-ophthalmopathy). Am J Dis Child 1976;130:65-6.
52. O'Donnell JJ, Sirkin S, Hall BD. Generalised osseous abnormalities in the Marshall syndrome. Birth Defects 1976;12:299-314.
53. Snead MP, Payne SJ, Barton DE, Yates JRW, Al-Imara L, Pope FM, Scott JD. Stickler syndrome: correlation between vitreo-retinal phenotypes and linkage to COL2A1. Eye 1994;8:609-14.
54. Snead MP, Yates JRW, Temple IK, Pope FM, Scott JD. Confirmation of linkage between type 1 congenital vitreous anomaly and COL2A1 in Stickler syndrome. Graefes Arch Clin Exp Ophthalmol (in press).
55. Miyashita K, Tokunaga M, Akiyama K, Tani M, Ando Y, Chin S, Matsuda A. Electronmicroscopic study on the vitreous membrane of the Stickler syndrome. Nippon Ganka Gakkai Zashi 1994; 98:86-91.
56. Lee B, Vissing H, Ramirez F, Rogers D, Rimoin D. Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. Science 1989; 244:978-80.
57. 1 antitrypsin in transgenic mice and man. J Clin Invest 1988;82:26-36.
58. Lodish HF. Transport of secretory and membrane glycoproteins from the rough endoplasmic reticulum to the golgi. J Biol Chem 1988;263:2107-10.
59. +51VS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita. Am J Hum Genet 1995; 56:388-95.
60. Lippincott-Schwartz J, Bonifacino JS, Yuan LC, Klausner RD. Degradation from the endoplasmic reticulum: disposing of newly synthesised proteins. Cell 1988;54:209-20.
61. Klausner RD, Sitia R. Protein degradation in the endoplasmic reticulum. Cell 1990;62:611-4.
62. Linsenmayer TF, Gibney E, Gordon MK, Marchant JK, Hayashi M, Fitch JM. Extracellular matrices of the developing chick retina and cornea. Invest Ophthalmol Vis Sci 1990;31:1271-6.
63. Maumenee IH. Vitreoretinal degeneration as a sign of generalised connective tissue diseases. Am J Ophthalmol 1979;88:432-49.
64. Young NJA, Hitchings RA, Sehmi K, Bird AC. Stickler's syndrome and neovascular glaucoma. Br J Ophthalmol 1979;63:826-31.
65. Beals RK. Hereditary arthro-ophthalmopathy (the Stickler syndrome). Clin Orthop 1977;125:32-5.
66. Beighton P. McKusick's heritable disorders of connective tissue. 5th ed. St Louis: Mosby, 1993:199-206.
67. Rai A, Wordsworth P, Coppock JS, Zaphiropoulos CG. Struthers GR. Hereditary arthro-ophthalmopathy (Stickler syndrome): a diagnosis to consider in familial premature osteoarthritis. Br J Rheumatol 1994;33:1175-80.
68. Liberfarb RM, Goldblatt A. Prevalence of mitralvalve prolapse in the Stickler syndrome. Am J Med Genet 1986;24:387-92.
69. Hill JC, Nelson MM. Stickler's syndrome: a report of a family. SAMJ 1989;75:238-41.
70. Cho H, Yamada Y, Yoo TJ. Ultrastructural changes of cochlea in mice with hereditary chondrodysplasia (cho/cho). Ann NY Acad Sci 1991;630:259-61.
71. Stuart JM, Townes AS, Kang AH. Type II collagen induced arthritis. Ann NY Acad Sci 1985;460:355-62.
72. Lucarini JW, Liberfarb RM, Eavey RD. Otolaryngological manifestations of the Stickler syndrome. Int J Pediatr Otorhinolaryngol 1987;14:215-22.
73. Say B, Berry J, Barber N. The Stickler syndrome (hereditary arthro-ophthalmopathy). Clin Genet 1977;12:179-82.
74. Edmund J. Familial retinal detachment. Acta Ophthalmol (Copenh) 1961;39:644-54.
75. Herrman J, France TD, Spranger JW, Opitz JM, Wiffler C. The Stickler syndrome (hereditary arthro-ophthalmopathy). Birth Defects (Original Article Series) 1975;11:76-103.
76. Hall JG, Herrod H. The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness. J Med Genet 1975;12:397-400.
77. Sheffield LJ, Reiss JA. Strohm RK, Gilding M. A genetic follow-up study of 64 patients with the Pierre Robin complex. Am J Med Genet 1987;28:25-36.
78. Saksena SS, Bixler D, Yu P-L. Stickler syndrome: a cephalometric study of the face. J Craniofac Genet Dev Biol 1983;3:19-28.
79. Fichard A, Kleman J-P, Ruggiero F. Another look at collagen V and XI molecules. Matrix Biol 1994; 14:515-31.
80. Upholt WB, Strom CM, Sandell LJ. Structure of the type II collagen gene. Ann NY Acad Sci 1985; 460:130-40.
81. Baldwin CT, Reginato AM, Smith C, Jimenez SA, Prockop DJ. Structure of cDNA clones coding for human type II procollagen. Biochem J 1989;262: 521-8.
82. Law ML, Tung L, Morse HG, Berger R, Jones C, Cheah KSE, Solomon E. The human type II collagen gene (COL2A1) assigned to 12q14.3. Ann Hum Genet 1986;50:131-7.
83. Takahashi E, Hori T, Sutherland GR. Mapping of the human type II collagen gene (COL 2A1) proximal to fra(12)(q13.1) by nonisotopic in situ hybridisation. Cytogenet Cell Genet 1990;54:84-5.
84. CEPH Collaborative mapping group. A comprehensive genetic linkage map of the human genome. Science 1992;258:67-86.
85. 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 (arthro-ophthalmopathy) is also a premature termination codon. Am J Hum Genet 1993;52:39-45.
86. Su MW, Benson-Chanda V, Vissing H, Ramirez F. Organisation of the exons coding for Pro α1(II) collagen N-peptide confirms a distinct evolutionary history of this domain of the fibrillar collagen genes. Genomics 1989;4:438-41.
87. Maumenee IH. Vitreo-retinal degeneration as a sign of generalised connective tissue diseases. Am J Ophthalmol 1979;88:432-49.
88. Francomano CA, Liberfarb RM, Hirose T, Maumenee IH, Streeten EA, Meyers DA, Pyeritz RE. The Stickler syndrome: evidence of close linkage to the structural gene for type II collagen. Genomics 1987;1:293-6.
89. Schwartz RC, Watkins D, Fryer AE, Goldberg R, Marion R, Polomeno RC, et al. Non-allelic genetic heterogeneity in the vitreoretinal degenerations of the Stickler and Wagner types and evidence for intragenic recombination at the COL2A1 locus [abstract]. Am J Hum Genet 1989;45 (Suppl): A218.
90. Francomano CA, Rowan BG, Liberfarb RM, Hirose T, Maumenee IH, Stoll HU, Pyeritz RE. The Stickler and Wagner syndromes: evidence for genetic heterogeneity. Am J Hum Genet 1988;43:A83.
91. Vintiner GM, Temple IK, Middleton-Price HR, Baraitser M, Malcolm S. Genetic and clinical heterogeneity of Stickler syndrome. Am J Med Genet 1991;41:44-8.
92. Knowlton RG, Weaver EJ, Struyk AF, Knowbloch WH, King RA, Norris K, et al. Genetic linkage analysis of hereditary arthro-ophthalmology (Stickler syndrome) and the type II procollagen gene. Am J Hum Genet 1989;45:681-8.
93. Fryer AE, Upadhyaya M, Littler M, Bacon P, Watkins D, Tsipouras P, Harper PS. Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome. J Med Genet 1990; 27:91-3.
94. Ahmad NN, Ala-Kokko L, Knowlton RG, Jimenez SA, Weaver EJ. Maguire JI, et al. Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci USA 1991;88:6624-7.
95. Brown DM, Nichols BE, Weingeist TA, Sheffield VC, Kimura AE, Stone EM. Procollagen II gene mutation in Stickler syndrome. Arch Ophthalmol 1992;110: 1589-93.
96. Korkko J, Ritvaniemi P, Haataja L, Kaariainen H, Kivirikko KI, Prockop DJ, Ala-Kokko L. Mutation in type II procollagen (COL2A1) that substitutes asparatate for glycine α1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and Stickler syndrome (arthro-ophthalmopathy). Am J Hum Genet 1993;53:55-61.
97. 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; 17:218-21.
98. Brunner HG, van Beersum SEC, Warman ML. Olsen BR, Ropers H-H, Mariman ECM. A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. Hum Mol Genet 1994;3:1561-4.
99. Snead MP, Williams R, Yates JRW, Pope FM, Scott JD. Stickler syndrome type 2 and linkage to the COL11A1 gene. Ann NY Acad Sci 1996;785:331-2.
100. Richards AJ, Pope FM, Yates JRW, Williams R, Scott JD. Snead MP. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of Glycine 97 by Valine in α1(XI) collagen. Hum Mol Genet 1996;9:1339-43.
101. Mayne R, Brewton RG, Mayne PM, Baker JR. Isolation and characterisation of the chains of type V/type XI collagen present in bovine vitreous. J Biol Chem 1993;268:9381-6.
102. Stratton RF, Lee B, Ramirez F. Marshall syndrome. Am J Med Genet 1991;41:35-8.