Variable Expressivity and High Penetrance of CYP1B1 Mutations Associated with Primary Congenital Glaucoma

Ophthalmology

Volumn 116, Issue 11, 2009, Pages 2101-2109

  Suri, Fatemeh ^a   Yazdani, Shahin ^b   Narooie Nejhad, Mehrnaz ^c   Zargar, Seyed Jalal ^a   Paylakhi, Seyed Hassan ^d   Zeinali, Sirous ^e   Pakravan, Mohammad ^b   Elahi, Elahe ^a  

^a UNIVERSITY OF TEHRAN   (Iran)

^b SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c NATIONAL INSTITUTE OF GENETIC ENGINEERING AND BIOTECHNOLOGY   (Iran)

^d TARBIAT MODARES UNIVERSITY   (Iran)

^e Kosar Human Genome Research Center   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 1B1;

ADOLESCENT; ADULT; ARTICLE; CONGENITAL GLAUCOMA; CONTROLLED STUDY; EYE EXAMINATION; FEMALE; GENE MUTATION; GENOTYPE; GONIOSCOPY; HUMAN; INTRAOCULAR PRESSURE; MAJOR CLINICAL STUDY; MALE; OPHTHALMOSCOPY; PRIORITY JOURNAL; STEREOSCOPIC VISION;

ADOLESCENT; ADULT; CYTOCHROME P-450 ENZYME SYSTEM; DISEASES IN TWINS; FEMALE; GENE EXPRESSION REGULATION; GENOTYPE; GLAUCOMA, OPEN-ANGLE; GONIOSCOPY; HUMANS; INTRAOCULAR PRESSURE; MALE; MIDDLE AGED; MUTATION; OCULAR HYPERTENSION; PEDIGREE; PENETRANCE; PERIMETRY; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; TWINS, MONOZYGOTIC; VISUAL FIELDS;

EID: 70349580795     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ophtha.2009.04.045     Document Type: Article

References (30)

1. Ray K., Mukhopadhyay A., and Acharya M. Recent advances in molecular genetics of glaucoma. Mol Cell Biochem 253 (2003) 223-231
2. Sarfarazi M. Recent advances in molecular genetics of glaucomas. Hum Mol Genet 6 (1997) 1667-1677
3. Thylefors B., and Negrel A. The global impact of glaucoma. Bull World Health Organ 72 (1994) 323-326
4. Shields M.B., Ritch R., and Krupin T. Classification of the glaucomas. In: Ritch R., Shields M., and Krupin T. (Eds). The Glaucomas. 2nd ed. (1996), Mosby, St. Louis, MO 717-725 vol. 2
5. Stone E.M., Fingert J.H., Alward W.L., et al. Identification of a gene that causes primary open angle glaucoma. Science 275 (1997) 668-670
6. Sarfarazi M., Stoilov I., and Schenkman J.B. Genetics and biochemistry of primary congenital glaucoma. Ophthalmol Clin North Am 16 (2003) 543-554 vi
7. 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
8. Dandona L., Williams J.D., Williams B.C., and Rao G.N. Population-based assessment of childhood blindness in southern India [letter]. Arch Ophthalmol 116 (1998) 545-546
9. Plasilova 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. 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
11. 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
12. Stoilov I., Akarsu A.N., and Sarfarazi M. identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet 6 (1997) 641-647
13. Nebert D.W., and Russell D.W. Clinical importance of the cytochromes P450. Lancet 360 (2002) 1155-1162
14. Acharya M., Mookherjee S., Bhattacharjee A., et al. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis [serial online] 12 (2006) 399-404. http://www.molvis.org/molvis/v12/a46/ Accessed April 19, 2009
15. Kumar A., Basavaraj M.G., Gupta S.K., et al. Role of CYP1B1, MYOC, OPTN and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients. Mol Vis [serial online] 13 (2007) 667-676. http://www.molvis.org/molvis/v13/a73/ Accessed April 19, 2009
16. López-Garrido M.-P., Sánchez-Sánchez F., López-Martínez F., et al. Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Mol Vis [serial online] 12 (2006) 748-755. http://www.molvis.org/molvis/v12/a84/ Accessed April 19, 2009
17. Melki R., Colomb E., Lefort N., et al. CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J Med Genet 41 (2004) 647-651
18. Vincent A.L., Billingsley G., Buys Y., et al. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet 70 (2002) 448-460
19. Bayat B., Yazdani S., Alavi A., et al. Contributions of MYOC and CYP1B1 mutations to JOAG. Mol Vis [serial online] 14 (2008) 508-517. http://www.molvis.org/molvis/v14/a61/ Accessed April 19, 2009
20. Suri F., Kalhor R., Zargar S.J., et al. Screening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocol. Mol Vis [serial online] 14 (2008) 2349-2356. http://www.molvis.org/molvis/v14/a271/ Accessed April 19, 2009
21. Jansson I., Stoilov I., Sarfarazi M., and Schenkman J.B. Effect of two mutations of human CYP1B1, G61E and R469W, on stability and endogenous steroid substrate metabolism. Pharmacogenetics 11 (2001) 793-801
22. Chakrabarti S., Kaur K., Komatireddy S., et al. Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India. Mol Vis [serial online] 11 (2005) 111-113. http://www.molvis.org/molvis/v11/a12/ Accessed April 19, 2009
23. Fried K., Sachs R., and Krakowsky D. Congenital glaucoma in only one of identical twins. Ophthalmologica 174 (1977) 185-187
24. Rasmussen D.H., and Ellis P.P. Congenital glaucoma in identical twins. Arch Ophthalmol 84 (1970) 827-830
25. Zhang K., and Jampel H.D. Discordance of primary infantile glaucoma in monozygotic twins. Am J Ophthalmol 128 (1999) 97-98
26. Zhuo Y.H., Wang M., Wei Y.T., et al. Analysis of MYOC gene mutation in a Chinese glaucoma family with primary open-angle glaucoma and primary congenital glaucoma. Chin Med J (Engl) 119 (2006) 1210-1214
27. Arney K.L., and Fisher A.G. Epigenetic aspects of differentiation. J Cell Sci 117 (2004) 4355-4363
28. Choi J.K., and Kim S.C. Environmental effects on gene expression phenotype have regional biases in the human genome. Genetics 175 (2007) 1607-1613
29. Tsujita T., Niikawa N., Yamashita H., et al. Genomic discordance between monozygotic twins discordant for schizophrenia. Am J Psychiatry 155 (1998) 422-424
30. Whitelaw E., and Martin D.I. Retrotransposons as epigenetic mediators of phenotypic variation in mammals. Nat Genet 27 (2001) 361-365