The genetics of open-angle glaucoma: The story of GLC1A and myocilin

Eye (Basingstoke)

Volumn 14, Issue 3, 2000, Pages 429-436

  Alward, Wallace L M ^a  

^a UNIVERSITY OF IOWA   (United States)

Author keywords

Genetics; Glaucoma; GLC1A; Myocilin; TIGR

Indexed keywords

CORTICOSTEROID; GENE PRODUCT; MYOCILIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHROMOSOME 1Q; CLINICAL ARTICLE; FAMILY STUDY; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GEOGRAPHIC DISTRIBUTION; HUMAN; MALE; ONSET AGE; OPEN ANGLE GLAUCOMA; PHENOTYPE; PROTEIN EXPRESSION; RACE; TRABECULAR MESHWORK;

EID: 0033926702     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/eye.2000.127     Document Type: Article

References (51)

1. Quigley HA. Number of people with glaucoma worldwide. Br J Ophthalmol 1996;80:389-93.
2. Leske MC. The epidemiology of open-angle glaucoma: a review. Am J Epidemiol 1983;118:166-91.
3. Leighton DA. Survey of the first-degree relatives of glaucoma patients. Trans Ophthalmol Soc UK 1976;96:28-32.
4. Miller SJH, Paterson GD. Studies on glaucoma relatives. Br J Ophthalmol 1962;46:513-22.
5. Dryja TP, McGee TL, Hahn LB, Cowley GS, Yandell DW, Sandberg MA. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 1990;343:364-6.
6. Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patii SR, Bennet SR, et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nature Genet 1998;19:140-7.
7. Mears AJ, Jordan T, Mirzayans F, Dubois S, Kume T, Parlee M, et al. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet 1998;63:1316-28.
8. Murray JC, Bennett SR, Kwitek AE, Small KW, Schinzel A, Alward WLM, et al. Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nature Genet 1992;2:46-9.
9. Stone EM, Fingert JH, Alward WLM, Nguyen TD, Polansky JR, Sunden SLF, et al. Identification of a gene that causes primary open angle glaucoma. Science 1997;275:668-70.
10. Mardin CY, Velten I, Ozbey S, Rautenstrauss B, Michels- Rautenstrauss K. A GLC1A gene GLN368Stop mutation in a patient with normal-tension open-angle glaucoma.J Glaucoma 1999;8:154-6.
11. Sheffield VC, Stone EM, Alward WLM, Drack AV, Johnson AT, Streb LM, et al. Genetic linkage of familial open angle glaucoma to chromosome Iq21-q31. Nature Genet 1993;4:47-50.
12. Collins FS. Positional cloning moves from perditional to traditional. Nature Genet 1995;9:347-50.
13. Johnson AT, Drack AV, Kwitek AE, Cannon RL, Stone EM, Alward WLM. Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma. Ophthalmology 1993;100:524-9.
14. Richards JE, Lichter PR, Boehnke ML, Uro J, Torrez D, Wong D, et al. Mapping of a gene for autosomal dominant juvenile- onset primary open-angle glaucoma to chromosome lq. Am J Hum Genet 1994;54:62-70.
15. Wiggs JL, Haines JL, Paglinauan C, Fine A, Sporn C, Lou D. Genetic linkage of autosomal dominant juvenile glaucoma to Iq21-q31 in three affected pedigrees. Genomics 1994;21:299-303.
16. Graff C, Urbak SF, Jemdal T, Wadclius C. Confirmation of linkage to lq21-31 in a Danish autosomal dominant juvcnile-onset glaucoma family and evidcncc of genette heterogeneity. Hum Genet 1995;96:285-9.
17. Lichter PR, Richards JE, Boehnke M, Othman M, Cameron BD, Stringham HM, et al. Juvenile glaucoma linked to the GLC1A gene on chromosome lq in a Panamanian family. Am I Ophthalmol 1997;123:413-6.
18. Morissette J, Côté G, Anctil J-L, Plante M, Amyot M, Héon E, et al. A common gene for juvenile and adult-onset primary open-angle glaucomas confined to chromosome lq. Am J Hum Genet 1995;56:1431-42.
19. Brezin AP, Bechetoille A, Hamard P, Valtot F, Berkani M, Belmouden A, et al. Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy. J Med Genet 1997;34:546-52.
20. Sunden SLF, Alvvard WLM, Nichols BE, Rokhlina TR, Nystuen A, Stone EM, et al. Fine mapping of the autosomal dominant juvenile open angle glaucoma (GLC1A) region and evaluation of candidate genes. Genome Res 1996;6:862-9.
21. Polansky JR, Fauss DJ, Chen P, Chen H, Lutjen-Drecoll E, Johnson D, et al. Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product. Ophthalmologica 1997;211:126-39.
22. Alward WL, Fingert JH, Coote MA, Johnson AT, Lemer SF, Junqua D, et al. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) see comments. N Engl J Med 1998;338:1022-7.
23. Adam MF, Belmouden A, Binisti P, Brezin AP, Valtot F, Bechetoille A, et al. Recurrent mutations in a single exon encoding the evolutionary conserved olfactomedin- homology domain of TIGR in familial open-angle glaucoma. Hum Mol Genet 1997;6:2091-7.
24. Angius A, De Gioia E, Loi A, Fossarello M, Sole G, Orzalesi N, et al. A novel mutation in the GLCl A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia. Arch Ophthalmol 1998;116:793-7.
25. Brezin AP, Adam MF, Belmouden A, Lureau MA, Chaventre A, Copin B, et al. Founder effect in GLClA-linked familial open-angle glaucoma in Northern France. Am J Med Genet 1998;76:438 45.
26. Kennan AM, Mansergh FC, Fingert JH, Clark T, Ayuso C, Kenna PF, et al. A novel Asp380Ala mutation in the GLCl A/myocilin gene in a family with juvenile onset primary open angle glaucoma. J Med Genet 1998;35:957-60.
27. Fingert JH, Ho E, Liebmann JM, Yamamoto T, Craig JE, Rait J, et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet 1999;8:899-905.
28. Yoon SJ, Kim HS, Moon JI, Lim JM, Joo CK. Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea letter. Am J Hum Genet 1999;64:1775-8.
29. Stoilova D, Child A, Brice G, Desai T, Barsoum-Homsy M, Özdemir N, et al. Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma. J Med Genet 1998;35:989-92.
30. Suzuki Y, Shirato S, Taniguchi F, Ohara K, Nishimaki K, Ohta S. Mutations in the TIGR gene in familial primary open- angle glaucoma in Japan. Am J Hum Genet 1997;61:1202-4.
31. Stoilova D, Child A, Brice G, Crick RP, Heck BW, Sarfarazi M. Identification of a new TIGR' mutation in a family with juvenile-onset primary open angle glaucoma. Ophthalmic Genet 1997;18:109-18.
32. Mansergh FC, Kenna PF, Ayuso C, Kiang A-S, Humphries P, Farrar GJ. Novel mutations in the TIGR gene in early and late onset open angle glaucoma. Hum Mutat 1998;11:244-51.
33. Kubota R, Noda S, Wang Y, Minoshima S, Asakawa S, Kudoh J, et al. A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping. Genomics 1997;41:360-9.
34. Bai RS, Anholt RR. Formation of the extracellular mucous matrix of olfactory neuroepithelium: identification of partially glycosylated and nonglycosylated precursors of olfactomedin. Biochemistry 1993 2:1047 53.
35. Lutjen-Drecoll E, May CA, Polansky JR, Johnson DH, Bloemendal H, Nguyen TD. Localization of the stress proteins alpha B-crystallin and trabecular meshwork inducible glucocorticoid response protein in normal and glaucomatous trabecular meshwork. Invest Ophthalmol Vis Sci 1998;39:517-25.
36. Fingert JH, Ying L, Swiderski RE, Nystuen AM, Arbour NC, Alward WLM, et al. Characterization and comparison of the human and mouse GLC1A glaucoma genes. Genome Res 1998;8:377-84.
37. Swiderski RE, Ying L, Cassell MD, Alward WL, Stone EM, Sheffield VC. Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain. Mol Brain Res 1999;68:64-72.
38. Clark A, English-Wright S, Lane D, Steely H, Fingert J, Stone E. Expression of the glaucoma gene myocilin in cells of the human optic nerve head. Invest Ophthalmol Vis Sci (Suppl) 1999;40:S673.
39. Borras T, Matsumoto Y, Epstein DL, Johnson DH. Gene transfer to the human trabecular meshwork by anterior segment perfusion. Invest Ophthalmol Vis Sci 1998;39:1503-7.
40. Borras T, Rowlette L, Erzurum S, Epstein D. Adenoviral reporter gene transfer to the human trabecular meshwork does not alter aqueous humor outflow: relevance for potential gene therapy of glaucoma. Gene Therapy 1999;6:515-24.
41. Stoilova D, Child A, Trifan OC, Crick RP, Coakes RL, Sarfarazi M. Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-ql3 region. Genomics 1996;36:142-50.
42. Wirtz MK, Samples JR, Kramer PL, Rust K, Topinka JR, Yount J, et al. Mapping a gene for adult-onset primary open- angle glaucoma to chromosome 3q [see comments]. Am J Hum Genet 1997;60:296-304.
43. Trifan OC, Traboulsi EL, Stoilova D, Alozie I, Nguyen R, Raja S, et al. A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region. Am J Ophthalmol 1998;126:17-28.
44. Sarfarazi M, Child A, Stoilova D, Brice G, Desai T, Trifan OC, et al. Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10pl5-pl4 region. Am J Hum Genet 1998;62:641-52.
45. Wirtz MK, Samples JR, Rust K, Lie J, Nordling L, Schilling K, et al. GLCIF, a new primary open-angle glaucoma locus, maps to 7q35-q36. Arch Ophthalmol 1999;117:237-41.
46. Michels-Rautenstrauss KG, Mardin CY, Budde WM, Liehr T, Polansky J, Nguyen T, et al. Juvenile open angle glaucoma: fine mapping of the TIGR gene to Iq24.3-q252 and mutation analysis. Hum Genet 1997;102:103-6.
47. Angius A, De Gioia E, Loi A, Fossarello M, Sole G, Orzalesi N, et al. A novel mutation in the GLCIA gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia. Arch Ophthalmol 1998;116:793-7.
48. Rozsa FW, Shimizu S, Lichter PR, Johnson AT, Othman MI, Scott K, et al. GLCIA mutations point to regions of potential functional importance on the TIGR/MYOC protein. Mol Vis 1998;4:20.
49. Richards JE, Ritch R, Lichter PR, Rozsa FW, Stringham HM, Caronia RM, et al. Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree. Ophthalmology 1998;105:169S-707.
50. Kee C, Ahn BH. TIGR gene in primary open-angle glaucoma and steroid-induced glaucoma. Korean J Ophthalmol 1997;11:75-8.
51. Wiggs JL, Allingham RR, Vollrath D, Jones KH, De La Paz M, Kern J, et al. Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma [letter]. Am J Hum Genet 1998;63:1549-52.