A novel mutation of CYP1B1 gene in primary congenital glaucoma

Chinese Journal of Ophthalmology

Volumn 45, Issue 10, 2009, Pages 875-878

  Huang, Ju Fang ^a   Zhou, Jin ^a   Wang, Hui ^a   Chen, Dan ^a   Zeng, Le Ping ^a   Tong, Jian Bin ^a   Xia, Xiao Bo ^a   Zheng mao, H U ^a  

^a Central South University   (China)

Author keywords

Aryl hydrocarbon hydroxylases; Glaucoma; Mutation

Indexed keywords

CYP1B1 PROTEIN, HUMAN; CYTOCHROME P450;

ARTICLE; CASE CONTROL STUDY; CHILD; FEMALE; GENETICS; GLAUCOMA; HAPLOTYPE; HUMAN; INFANT; MALE; MUTATION; PRESCHOOL CHILD;

CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CYTOCHROME P-450 ENZYME SYSTEM; FEMALE; GLAUCOMA; HAPLOTYPES; HUMANS; INFANT; MALE; MUTATION;

EID: 70350532545     PISSN: 04124081     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.0412-4081.2009.10.004     Document Type: Article

References (16)

1. [1] Stoilov I, Akarsu AN, Alozie I, et al. Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hing region or the conserved core structures of cytochrome P4501B1. Am J Hum Genet, 1998,62; 573-584. (Pubitemid 28164614)
2. Vasiliou V,Gonzalez FJ. Role of CYP1B1 in glaucoma. Annu Rev Pharmacol Toxicol, 2008, 48: 333-358.
3. Sivadorai P, Cheminkova S, Bouwer S,et al. Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies. Clin Genet, 2008,74; 82-87.
4. [6] Stoilov IR, Costa VP, Vasconcellos JP, et al. Molecular genetics of primary congenital glaucoma in brazil. Invest Ophthalmol Vis Sci, 2002,43:1820-1827. (Pubitemid 34587027)
5. [7] Sarfarazi M, Stoilov I, Schenkman JB. Genetics and biochemistry of primary congenital glaucoma. Ophthalmol Clin North Am, 2003, 16: 543-554. (Pubitemid 38044989)
6. [8] 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, 2003,87:302-304. (Pubitemid 36307903)
7. Stoilov I, Akarsu AN, 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.
8. + - ATPase in the cornea. Proc Natl Acad Sci USA,1987,84:8125-8129.
9. Choudhary D, Jansson I, Sarfarazi M, et al. Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma. Pharmacogenet Genomics, 2008,18:665-676.
10. Achary MS, Reddy AB, Chakrabarti S, et al. Disease-causing mutations in proteins :structural analysis of the CYP1B1 mutations causing primary congenital glaucoma in humans. Biophys J, 2006, 91:43294339.
11. Chakrabarti S, Kaur K, Rao KN, et al. The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma. Invest Ophthalmol Vis Sci, 2009,50:75-83.
12. [14] Ray K, Mukhopadhyay A, Acharya M. Recent advances in molecular genetics of glaucoma. Mol Cell Biochem, 2003,253: 223-231. (Pubitemid 37321729)
13. Aklillu E, Oscarson M, Hidestrand M. Function analysis of six different polymorphic CYP1B1 enzyme varants found in an Ethiopian population. Mol Pharmacol, 2002,61 :586-594.
14. Mashima Y, Suzuki Y, Sergeev Y, et al. Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma. Invest Ophthalmol Vis Sci, 2001, 42:2211-2216.