Genetic screening in a large family with juvenile onset primary open angle glaucoma

British Journal of Ophthalmology

Volumn 84, Issue 7, 2000, Pages 722-726

  Booth, Adam P ^a,b   Anwar, Rashida ^a   Chen, Hua ^b   Churchill, Amanda J ^a   Jay, Jeffrey ^c   Polansky, Jon ^b   Nguyen, Thai ^b   Markham, Alexander F ^a  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c Tennent Institute of Ophthalmology   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ARGININE; GLYCINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CODON; DNA SEQUENCE; FAMILY STUDY; GENE LOCUS; GENE MUTATION; GENETIC SCREENING; HUMAN; OPEN ANGLE GLAUCOMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; AMINO ACID SUBSTITUTION; FEMALE; GENES, DOMINANT; GENETIC SCREENING; GLAUCOMA, OPEN-ANGLE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PENETRANCE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 0033921037     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.84.7.722     Document Type: Article

References (35)

1. Booth A, Churchill A, Anwar R, et al. The genetics of primary open-angle glaucoma. Br J Ophthalmol 1997;81:409-14.
2. Netland PA, Wiggs JL, Dreyer EB. Inheritance of glaucoma and genetic counselling of glaucoma patients. Int Ophthalmol Clin 1990;332:101-20.
3. Teikari JM. Genetic factors in open-angle (simple and capsular) glaucoma: a population-based twin study. Acta Ophthalmol (Copenh) 1987;65:715-20.
4. François J. Genetic predisposition to glaucoma. Dev Ophthalmol 1981;3:1-45.
5. Posner A, Schlossman A. Role of inheritance in glaucoma. Arch Ophthalmol 1949;41:125-50.
6. Leydhecker W. Simple glaucoma before the age of 30 years. Ophthalmologica 1979;178:32-6.
7. Crombie A.L, Cullen J.F. Hereditary glaucoma. Occurrence in five generations of an Edinburgh family. Br J Ophthalmol 1964;48:143-7.
8. Johnson AT, Drack AV, Kwitek AE, et al. Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma. Ophthalmology 1993;100:524-9.
9. Sheffield VC, Stone EM, Alward WLM, et al. Genetic linkage of familial open angle glaucoma to chromosome 1q21- q31. Nat Genet 1993;4:47-50.
10. Stoilova D, Child A, Trifan OC, et al. Localisation of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region. Genomics 1996;36:142-50.
11. Wirtz MK, Samples JR, Kraemer PL, et al. Mapping a gene for adult-onset primary open angle glaucoma to chromosome 3p. Am J Hum Genet 1997;60:296-304.
12. Trifan OC, Traboulsi EI, Stoilova D, et al. A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region. AmJ Ophthalmol 1998;126:17-28.
13. Sarfarazi M, Child A, Stoilova D, et al. Localisation of the fourth locus (GLCIE) for adult-onset primary open-angle glaucoma to the 10p14-p14 region. Am J Hum Genet 1998;62:641-52.
14. Wirtz MK, Samples JR, Rust K, et al. GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36. Arch Ophthalmol 1999;117:237-41.
15. Stone EM, Fingert JH, Alward WLM, et al. Identification of a gene that causes primary open angle glaucoma. Science 1997;275:668-70.
16. Anwar R, Booth A, Churchill A, et al. Novel primer-specific false terminations during DNA sequencing: danger of inaccuracy of mutation analysis in molecular diagnostics. J Clin Mol Path 1996;49:M312-14.
17. Walton DS. Juvenile open-angle glaucoma. In: Epstein DL, ed. Chandler and Grant's glaucoma. 3rd ed. Philadelphia: Lea and Febiger,1986:528-9.
18. Goldwyn R, Waltman SR, Becker B. Primary open-angle glaucoma in adolescents and young adults. Arch Ophthalmol 1970;84:579-82.
19. Angius A, De Gioia E, Loi A, et al. A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia. Arch Ophthalmol 1998;116:793-7.
20. Graff C, Urbak SF, Jerndal T, et al. Confirmation of linkage to 1q21-q31 in a Danish autosomal dominant juvenileonset glaucoma family and evidence of genetic heterogeneity. Hum Genet 1995;96:285-9.
21. Mansergh FC, Kenna PF, Ayuso C, et al. Novel mutations in the TIGR gene in early and late onset primary open-angle glaucoma. Hum Mut 1998;11:244-51.
22. Arias-Puente A, Gomez ML, Carrasco C, et al. Juvenile glaucoma. Irido-corneal angle morphology. Invest Ophthalmol Vis Sci 1996;37:S819.
23. Stegman Z, Sokol J, Tello C, et al. Reduced trabecular meshwork size in juvenile primary open angle glaucoma. Invest Ophthalmol Vis Sci 1995;36:S564.
24. Rozsa FW, Ritch R, Othman M, et al. GLC1A glaucoma family lacks mutations in coding sequences or splice sites of the TIGR glaucoma gene. Invest Ophthalmol Vis Sci 1998;39:S32.
25. Rozsa FW, Shimizu S Lichter PR, et al. GLC1A mutations point to regions of functional importance on the TIGR/ MYOC protein. Mol Vis 1998;4:20.
26. Alward WL, Fingert JH, Coote MA, et al. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A). N Engl J Med 1998;338:1022-7.
27. Wiggs JL, Allingham RR, Vollrath D, J et al. Frequency of mutations in TIGR/MYOC in families with juvenile and adult onset primary open-angle glaucoma. Invest Ophthalmol Vis Sci 1998;39:S30.
28. Allingham RR, Wiggs JL, Reardon M, et al. Myocilin (Gln368Stop) mutation in families with primary open angle glaucoma. Invest Ophthalmol Vis Sci 1998;39: S687.
29. Nguyen TD, Chen P, Huang WD, et al. Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells. J Biol Chem 1998;273:6341.
30. Polansky JR, Fauss DJ, Chen P, et al. Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product. Ophthalmologica 1997;211:126-39.
31. Booth A, Chen P, Do TT, et al. Studies on the TIGR promoter functions. Invest Ophthalmol Vis Sci 1998;39:S514.
32. Polansky JR, Nguyen TD. The TIGR gene, pathogenic mechanisms, and other recent advances in glaucoma genetics. Curr Opin Ophthalmol 1998;9:15-23.
33. Snyder DA, Rivers AM, Yokoe H, et al. Olfactomedin: purification, characterisation and localisation of a novel olfactory glycoprotein. Biochemistry 1991;30:9143-53.
34. Morissette J, Clepet C, Moisan S, et al. Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. Nat Genet 1998;19:319-21.
35. Brézin AP, Adam MF, Belmouden A, et al. Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France. Am J Med Genet 1998;76:438-45.