A Clinical and Molecular Genetic Study of German Patients with Primary Congenital Glaucoma

American Journal of Ophthalmology

Volumn 147, Issue 4, 2009, Pages 744-753

  Weisschuh, Nicole ^a   Wolf, Christiane ^a   Wissinger, Bernd ^a   Gramer, Eugen ^b  

^a Institute for Ophthalmic Research   (Germany)

^b UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 1B1;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONGENITAL GLAUCOMA; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE IDENTIFICATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; AMINO ACID SEQUENCE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CYTOCHROME P-450 ENZYME SYSTEM; DNA MUTATIONAL ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GERMANY; GLAUCOMA; HUMANS; INCIDENCE; MALE; MOLECULAR BIOLOGY; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

EID: 62649111045     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2008.11.008     Document Type: Article

References (36)

1. DeLuise V.P., and Anderson D.R. Primary infantile glaucoma (congenital glaucoma). Surv Ophthalmol 28 (1983) 1-19
2. François J. Congenital glaucoma and its inheritance. Ophthalmologica 18 (1980) 61-73
3. Bejjani B.A., Stockton D.W., Lewis R.A., et al. Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet 9 (2000) 367-374
4. Sarfarazi M., Akarsu A.N., Hossain A., et al. Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics 30 (1995) 171-177
5. Curry S.M., Daou A.G., Hermanns P., et al. Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador. Ophthalmic Genet 25 (2004) 3-9
6. Stoilov I.R., Costa V.P., Vasconcellos J.P., et al. Molecular genetics of primary congenital glaucoma in Brazil. Invest Ophthalmol Vis Sci 43 (2002) 1820-1827
7. Belmouden A., Melki R., Hamdani M., et al. A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. Clin Genet 62 (2002) 334-339
8. Kakiuchi-Matsumoto T., Isashiki Y., Ohba N., et al. Cytochrome P4501B1 gene mutations in Japanese patients with primary congenital glaucoma. Am J Ophthalmol 131 (2001) 345-350
9. Plásilová M., Stoilov I., Sarfarazi M., et al. Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. J Med Genet 36 (1999) 290-294
10. Akarsu A.N., Turacli M.E., Aktan S.G., et al. A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. Hum Mol Genet 5 (1996) 1199-1203
11. Nebert D.W., and Russell D.W. Clinical importance of the cytochromes P450. Lancet 360 (2002) 1155-1162
12. Bejjani B.A., Xu L., Armstrong D., et al. Expression patterns of cytochrome P4501B1 (CYP1B1) in FVB/N mouse eyes. Exp Eye Res 75 (2002) 249-257
13. Hayes C.L., Spink D.C., Spink B.C., et al. Seventeen beta-estradiol hydroxylation catalyzed by human cytochrome P4501B1. Proc Natl Acad Sci U S A 93 (1996) 9776-9781
14. Zhang Q.Y., Dunbar D., and Kaminsky L. Human cytochrome P-450 metabolism of retinals to retinoic acids. Drug Metab Dispos 28 (2000) 292-297
15. Weisschuh N., Neumann D., Wolf C., et al. Prevalence of myocilin and optineurin sequence variants in German normal tension glaucoma patients. Mol Vis 11 (2005) 284-287
16. Stephens M., Smith N.J., and Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68 (2001) 978-989
17. Ng P.C., and Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 31 (2003) 3812-3814
18. Aulhorn E., and Karmeyer H. Frequency distribution in early glaucomatous visual field defects. Doc Ophthalmol Proc Series 14 (1977) 75-83
19. Dickens C.J., and Hoskins H.D. Congenital glaucoma. In: Ritch R., Shields M.B., and Krupin T. (Eds). The Glaucomas. 2nd ed. (1996), Mosby, St Louis, Missouri 727-749
20. Gencik A., Gencikova A., and Ferák V. Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset. Hum Genet 61 (1982) 193-197
21. Vincent A., Billingsley G., Priston M., et al. Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. J Med Genet 38 (2001) 324-326
22. Chavarria-Soley G., Michels-Rautenstrauss K., Caliebe A., et al. Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD). J Glaucoma 15 (2006) 499-504
23. Bejjani B.A., Lewis R.A., Tomey K.F., et al. Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am J Hum Genet 62 (1998) 325-333
24. Stoilov I., Akarsu A.N., Alozie I., et al. Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. Am J Hum Genet 62 (1998) 573-584
25. Ohtake Y., Tanino T., Suzuki Y., et al. Phenotype of cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma. Br J Ophthalmol 87 (2003) 302-304
26. Kaur K., Reddy A.B., Mukhopadhyay A., et al. Myocilin gene implicated in primary congenital glaucoma. Clin Genet 67 (2005) 335-340
27. Sena D.F., Finzi S., Rodgers K., et al. Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil. J Med Genet 41 (2004) 6e
28. Melki R., Lefort N., Brézin A.P., and Garchon H.J. Association of a common coding polymorphism (N453S) of the cytochrome P4501B1 (CYP1B1) gene with optic disc cupping and visual field alteration in French patients with primary open-angle glaucoma. Mol Vis 11 (2005) 1012-1017
29. Merin S., and Morin D. Heredity of congenital glaucoma. Br J Ophthalmol 56 (1972) 414-417
30. Biglan A.W. Glaucoma in children: are we making progress?. J AAPOS 10 (2006) 7-21
31. Chavarria-Soley G., Michels-Rautenstrauss K., Pasutto F., et al. Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. Mol Vis 12 (2006) 523-531
32. Choudhary D., Jansson I., Sarfarazi M., and Schenkman J.B. Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma. Pharmacogenet Genomics 18 (2008) 665-676
33. Dimasi D.P., Hewitt A.W., Straga T., et al. Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma. Clin Genet 72 (2007) 255-260
34. Zenteno J.C., Hernandez-Merino E., Mejia-Lopez H., et al. Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico. J Glaucoma 17 (2008) 189-192
35. Soley G.C., Bosse K.A., Flikier D., et al. Primary congenital glaucoma: a novel single-nucleotide deletion and varying phenotypic expression for the 1,546-1,555 dup mutation in the GLC3A (CYP1B1) gene in 2 families of different ethnic origin. J Glaucoma 12 (2003) 27-30
36. Simha N., Vérin P., and Gauthier L. Congenital glaucoma of dominant autosomal transmission apropos of a family. Management. Bull Soc Ophtalmol Fr 89 (1989) 1149-1151