Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma

Experimental Eye Research

Volumn 93, Issue 5, 2011, Pages 572-579

  Li, Ni ^a   Zhou, Yong ^a   Du, Liang ^b   Wei, Maoling ^b   Chen, Xiaoming ^a  

^a SICHUAN UNIVERSITY   (China)

^b Chinese Evidenced Based Medicine   (China)

Author keywords

CYP1B1; Gene; GLC3A; Mutation; Primary congenital glaucoma

Indexed keywords

ALANINE; CYTOCHROME P450 1B1; DNA; GLYCINE; METHIONINE; VALINE;

ASIAN; CAUCASIAN; CONGENITAL GLAUCOMA; DISEASE ASSOCIATION; EMBASE; ETHNIC DIFFERENCE; GENETIC ANALYSIS; GEOGRAPHIC DISTRIBUTION; HUMAN; MEDLINE; MISSENSE MUTATION; PRIMARY CONGENITAL GLAUCOMA; PRIORITY JOURNAL; RELIABILITY; REVIEW; SYSTEMATIC REVIEW;

ARYL HYDROCARBON HYDROXYLASES; CONTINENTAL POPULATION GROUPS; DATABASES, FACTUAL; DNA MUTATIONAL ANALYSIS; FOUNDER EFFECT; GENETICS, POPULATION; HUMANS; HYDROPHTHALMOS; MUTATION;

EID: 81355127651     PISSN: 00144835     EISSN: 10960007     Source Type: Journal    
DOI: 10.1016/j.exer.2011.07.009     Document Type: Review

References (64)

1. Achary M.S., Reddy A.B., Chakrabarti S., Panicker S.G., Mandal A.K., Ahmed N., Balasubramanian D., Hasnain S.E., Nagarajaram H.A. Disease-causing mutations in proteins: structural analysis of the CYP1B1 mutations causing primary congenital glaucoma in humans. Biophys. J. 2006, 91:4329-4339.
2. Alfadhli S., Behbehani A., Elshafey A., Abdelmoaty S., Al-Awadi S. Molecular and clinical evaluation of primary congenital glaucoma in Kuwait. Am. J. Ophthalmol. 2006, 141:512-516.
3. Bagiyeva S., Marfany G., Gonzalez-Angulo O., Gonzalez-Duarte R. Mutational screening of CYP1B1 in Turkish PCG families and functional analyses of newly detected mutations. Mol. Vis. 2007, 13:1458-1468.
4. Bar-Yosef U., Levy J., Elbedour K., Ofir R., Carmi R., Birk O.S. Congenital glaucoma: CYP1B1 mutations in Israeli Bedouin kindreds. J. Glaucoma 2010, 19:35-38.
5. Bejjani B.A., Lewis R.A., Tomey K.F., Anderson K.L., Dueker D.K., Jabak M., Astle W.F., Otterud B., Leppert M., Lupski J.R. Mutations in CYP1B1, the gene for cytochrome P450 1B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am. J. Hum. Genet. 1998, 62:325-333.
6. Bejjani B.A., Stockton D.W., Lewis R.A., Tomey K.F., Dueker D.K., Jabak M., Astle W.F., Lupski J.R. 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. 2000, 9:367-374.
7. Belmouden A., Melki R., Hamdani M., Zaghloul K., Amraoui A., Nadifi S., Akhayat O., Garchon H.J. A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco. Clin. Genet. 2002, 62:334-339.
8. Brinkmann J.F., Ottenheim C.P., Zegers R.H., de Jong P.T., Bergen A.A. Gene symbol: CYP1B1. Disease: glaucoma, primary congenital. Accession #Hd0513. Hum. Genet. 2006, 118:775.
9. Brinkmann J.F., Ottenheim C.P., Zegers R.H., de Jong P.T., Bergen A.A. Gene symbol: CYP1B1. Disease: glaucoma, primary congenital. Accession #Hm0541. Hum. Genet. 2006, 118:779.
10. Campos-Mollo E., Lopez-Garrido M.P., Blanco-Marchite C., Garcia-Feijoo J., Peralta J., Belmonte-Martinez J., Ayuso C., Escribano J. CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. Mol. Vis. 2009, 15:417-431.
11. Chakrabarti S., Komatireddy S., Mandal A.K., Balasubramanian D. Gene symbol: CYP1B1. Disease: glaucoma, primary congenital. Hum. Genet. 2003, 113:556.
12. Chavarria-Soley G., Michels-Rautenstrauss K., Pasutto F., Flikier D., Flikier P., Cirak S., Bejjani B., Winters D.L., Lewis R.A., Mardin C., Reis A., Rautenstrauss B. Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. Mol. Vis. 2006, 12:523-531.
13. Chen Y., Jiang D., Yu L., Katz B., Zhang K., Wan B., Sun X. CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma. Arch. Ophthalmol. 2008, 126:1443-1447.
14. Chitsazian F., Tusi B.K., Elahi E., Saroei H.A., Sanati M.H., Yazdani S., Pakravan M., Nilforooshan N., Eslami Y., Mehrjerdi M.A., Zareei R., Jabbarvand M., Abdolahi A., Lasheyee A.R., Etemadi A., Bayat B., Sadeghi M., Banoei M.M., Ghafarzadeh B., Rohani M.R., Rismanchian A., Thorstenson Y., Sarfarazi M. CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes. J. Mol. Diagn. 2007, 9:382-393.
15. Choudhary D., Jansson I., Schenkman J.B. CYP1B1, a developmental gene with a potential role in glaucoma therapy. Xenobiotica 2009, 39:606-615.
16. Colomb E., Kaplan J., Garchon H.J. Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France. Hum. Mutat. 2003, 22:496.
17. Curry S.M., Daou A.G., Hermanns P., Molinari A., Lewis R.A., Bejjani B.A. Cytochrome P450 1B1 mutations cause only part of primary congenital glaucoma in Ecuador. Ophthalmic Genet. 2004, 25:3-9.
18. Della Paolera M., de Vasconcellos J.P., Umbelino C.C., Kasahara N., Rocha M.N., Richeti F., Costa V.P., Tavares A., de Melo M.B. CYP1B1 gene analysis in primary congenital glaucoma Brazilian patients: novel mutations and association with poor prognosis. J. Glaucoma 2010, 19:176-182.
19. Dimasi D.P., Hewitt A.W., Straga T., Pater J., MacKinnon J.R., Elder J.E., Casey T., Mackey D.A., Craig J.E. Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma. Clin. Genet. 2007, 72:255-260.
20. El-Ashry M.F., Abd El-Aziz M.M., Bhattacharya S.S. A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG). J. Glaucoma 2007, 16:104-111.
21. El-Gayar S., Ganesh A., Chavarria-Soley G., Al-Zuhaibi S., Al-Mjeni R., Raeburn S., Bialasiewicz A.A. Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study. Mol. Vis. 2009, 15:1325-1331.
22. Firasat S., Riazuddin S.A., Khan S.N., Riazuddin S. Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma. Mol. Vis. 2008, 14:2002-2009.
23. Fuse N., Miyazawa A., Takahashi K., Noro M., Nakazawa T., Nishida K. Mutation spectrum of the CYP1B1 gene for congenital glaucoma in the Japanese population. Jpn. J. Ophthalmol. 2010, 54:1-6.
24. Hilal L., Boutayeb S., Serrou A., Refass-Buret L., Shisseh H., Bencherifa F., El Mzibri M., Benazzouz B., Berraho A. Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1. Mol. Vis. 2010, 16:1215-1226.
25. Hollander D.A., Sarfarazi M., Stoilov I., Wood I.S., Fredrick D.R., Alvarado J.A. Genotype and phenotype correlations in congenital glaucoma: CYP1B1 mutations, goniodysgenesis, and clinical characteristics. Am. J. Ophthalmol. 2006, 142:993-1004.
26. Huang L.N., Ji P.X., Cheng H.B., et al. Initial study in CYP1B1 gene of primary congenital glaucoma. Chin. J. Pract. Ophthalmol. 2007, 25:280-282.
27. Huang J.F., Zhou J., Wang H., Chen D., Zeng L.P., Tong J.B., Xia X.B., Hu Z.M. A novel mutation of CYP1B1 gene in primary congenital glaucoma. Zhonghua Yan Ke Za Zhi 2009, 45:875-878.
28. Jiang F.G., Liu X.W., Hou H.P. Analysis of the CYP1B1 gene mutation in primary congenital glaucoma patients of Hubei Han nationality. Zhonghua Yan Ke Za Zhi 2007, 43:779-783.
29. Kakiuchi-Matsumoto T., Isashiki Y., Ohba N., Kimura K., Sonoda S., Unoki K. Cytochrome P450 1B1 gene mutations in Japanese patients with primary congenital glaucoma(1). Am. J. Ophthalmol. 2001, 131:345-350.
30. Lai J., Vesprini D., Chu W., Jernstrom H., Narod S.A. CYP gene polymorphisms and early menarche. Mol. Genet. Metab. 2001, 74:449-457.
31. Long J.R., Shu X.O., Cai Q., Cai H., Gao Y.T., Jin F., Zheng W. Polymorphisms of the CYP1B1 gene may be associated with the onset of natural menopause in Chinese women. Maturitas 2006, 55:238-246.
32. Lopez-Garrido M.P., Campos-Mollo E., Harto M.A., Escribano J. Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2. Clin. Genet. 2009, 76:552-557.
33. Martin S.N., Sutherland J., Levin A.V., Klose R., Priston M., Heon E. Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness. J. Med. Genet. 2000, 37:422-427.
34. Mashima Y., Suzuki Y., Sergeev Y., Ohtake Y., Tanino T., Kimura I., Miyata H., Aihara M., Tanihara H., Inatani M., Azuma N., Iwata T., Araie M. Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma. Invest. Ophthalmol. Vis. Sci. 2001, 42:2211-2216.
35. Messina-Baas O.M., Gonzalez-Huerta L.M., Chima-Galan C., Kofman-Alfaro S.H., Rivera-Vega M.R., Babayan-Mena I., Cuevas-Covarrubias S.A. Molecular analysis of the CYP1B1 gene: identification of novel truncating mutations in patients with primary congenital glaucoma. Ophthalmic Res. 2007, 39:17-23.
36. Michels-Rautenstrauss K.G., Mardin C.Y., Zenker M., Jordan N., Gusek-Schneider G.C., Rautenstrauss B.W. Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene. J. Glaucoma 2001, 10:354-357.
37. Nirmaladevi J., Karthiyayini T., Kumaramanickavel G. Gene symbol: CYP1B1. Disease: primary congenital glaucoma. Accession #Hd0515. Hum. Genet. 2006, 118:775.
38. Nirmaladevi J., Karthiyayini T., Kumaramanickavel G. Gene symbol: CYP1B1. Disease: primary congenital glaucoma. Accession #Hm0544. Hum. Genet. 2006, 118:779.
39. Panicker S.G., Mandal A.K., Reddy A.B., Gothwal V.K., Hasnain S.E. Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma. Invest. Ophthalmol. Vis. Sci. 2004, 45:1149-1156.
40. Paracchini V., Pedotti P., Raimondi S., Garte S., Bradlow H.L., Sepkovic D.W., Taioli E. A common CYP1B1 polymorphism is associated with 2-OHE1/16-OHE1 urinary estrone ratio. Clin. Chem. Lab. Med. 2005, 43:702-706.
41. Plasilova M., Stoilov I., Sarfarazi M., Kadasi L., Ferakova E., Ferak V. Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. J. Med. Genet. 1999, 36:290-294.
42. Ramprasad V.L., George R.J., Sripriya S., Nirmaladevi J., Vijaya L., Kumaramanickavel G. Molecular genetic analysis of a consanguineous south Indian family with congenital glaucoma: relevance of genetic testing and counseling. Ophthalmic Genet. 2007, 28:17-24.
43. Reddy A.B., Panicker S.G., Mandal A.K., Hasnain S.E., Balasubramanian D. Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients. Invest. Ophthalmol. Vis. Sci. 2003, 44:4200-4203.
44. Reddy A.B., Kaur K., Mandal A.K., Panicker S.G., Thomas R., Hasnain S.E., Balasubramanian D., Chakrabarti S. Mutation spectrum of the CYP1B1 gene in Indian primary congenital glaucoma patients. Mol. Vis. 2004, 10:696-702.
45. Sarfarazi M., Stoilov I. Molecular genetics of primary congenital glaucoma. Eye (Lond) 2000, 14(Pt 3B):422-428.
46. Sarfarazi M., Stoilov I., Schenkman J.B. Genetics and biochemistry of primary congenital glaucoma. Ophthalmol. Clin. North Am. 2003, 16:543-554. vi.
47. Sena D.F., Finzi S., Rodgers K., Del Bono E., Haines J.L., Wiggs J.L. Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil. J Med Genet. 2004, 41:e6.
48. Sitorus R., Ardjo S.M., Lorenz B., Preising M. CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients. J Med Genet. 2003, 40:e9.
49. Sivadorai P., Cherninkova S., Bouwer S., Kamenarova K., Angelicheva D., Seeman P., Hollingsworth K., Mihaylova V., Oscar A., Dimitrova G., Kaneva R., Tournev I., Kalaydjieva L. Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies. Clin. Genet. 2008, 74:82-87.
50. Sowers M.R., Wilson A.L., Kardia S.R., Chu J., McConnell D.S. CYP1A1 and CYP1B1 polymorphisms and their association with estradiol and estrogen metabolites in women who are premenopausal and perimenopausal. Am. J. Med. 2006, 119:S44-S51.
51. Stoilov I., Akarsu A.N., 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. 1997, 6:641-647.
52. Stoilov I., Akarsu A.N., Alozie I., Child A., Barsoum-Homsy M., Turacli M.E., Or M., Lewis R.A., Ozdemir N., Brice G., Aktan S.G., Chevrette L., Coca-Prados M., Sarfarazi M. 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 P450 1B1. Am. J. Hum. Genet. 1998, 62:573-584.
53. Stoilov I.R., Costa V.P., Vasconcellos J.P., Melo M.B., Betinjane A.J., Carani J.C., Oltrogge E.V., Sarfarazi M. Molecular genetics of primary congenital glaucoma in Brazil. Invest. Ophthalmol. Vis. Sci. 2002, 43:1820-1827.
54. Strom C.M., Strom S., Redman Ms J., Sun W. Prenatal diagnosis for primary congenital glaucoma (bupthalmous). Prenat Diagn. 2006, 26:877.
55. Suri F., Yazdani S., Narooie-Nejhad M., Zargar S.J., Paylakhi S.H., Zeinali S., Pakravan M., Elahi E. Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma. Ophthalmology 2009, 116:2101-2109.
56. Tanwar M., Dada T., Sihota R., Dada R. Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients. Mol. Vis. 2009, 15:2926-2937.
57. Tanwar M., Dada T., Sihota R., Das T.K., Yadav U., Dada R. Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients. Mol. Vis. 2009, 15:1200-1209.
58. Tokizane T., Shiina H., Igawa M., Enokida H., Urakami S., Kawakami T., Ogishima T., Okino S.T., Li L.C., Tanaka Y., Nonomura N., Okuyama A., Dahiya R. Cytochrome P450 1B1 is overexpressed and regulated by hypomethylation in prostate cancer. Clin. Cancer Res. 2005, 11:5793-5801.
59. Vasiliou V., Gonzalez F.J. Role of CYP1B1 in glaucoma. Annu. Rev. Pharmacol. Toxicol. 2008, 48:333-358.
60. Vincent A.L., Billingsley G., Buys Y., Levin A.V., Priston M., Trope G., Williams-Lyn D., Heon E. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am. J. Hum. Genet. 2002, 70:448-460.
61. Wang H.W., Chen T.L., Yang P.C., Ma Y.C., Yu C.C., Ueng T.H. Induction of cytochromes P450 1A1 and 1B1 in human lung adenocarcinoma CL5 cells by frying-meat emission particulate. Food Chem. Toxicol. 2002, 40:653-661.
62. Weisschuh N., Wolf C., Wissinger B., Gramer E. A clinical and molecular genetic study of German patients with primary congenital glaucoma. Am. J. Ophthalmol. 2009, 147:744-753.
63. Yang M., Guo X., Liu X., Shen H., Jia X., Xiao X., Li S., Fang S., Zhang Q. Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma. Mol. Vis. 2009, 15:432-437.
64. Zenteno J.C., Hernandez-Merino E., Mejia-Lopez H., Matias-Florentino M., Michel N., Elizondo-Olascoaga C., Korder-Ortega V., Casab-Rueda H., Garcia-Ortiz J.E. Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico. J. Glaucoma 2008, 17:189-192.