Congenital glaucoma: CYP1B1 mutations in Israeli bedouin kindreds

Journal of Glaucoma

Volumn 19, Issue 1, 2010, Pages 35-38

  Bar Yosef, Udy ^a   Levy, Jaime ^b   Elbedour, Khalil ^a   Ofir, Rivka ^a   Carmi, Rivka ^a   Birk, Ohad S ^a  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

Arab Bedouin; Genetics; Primary congenital glaucoma

Indexed keywords

CYTOCHROME P450 1B1; CYTOSINE; GENOMIC DNA; GUANOSINE;

ARAB; ARTICLE; CHILD; CLINICAL ARTICLE; CONGENITAL GLAUCOMA; CONSANGUINITY; DNA SEQUENCE; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC MARKER; GENETIC POLYMORPHISM; HIGH RISK POPULATION; HOMOZYGOSITY; HUMAN; ISRAEL; LINKAGE ANALYSIS; MALE; PEDIGREE; PRIMARY GLAUCOMA; PRIORITY JOURNAL; SAUDI ARABIA; SEQUENCE ANALYSIS;

ARABS; CONSANGUINITY; CYTOCHROME P-450 ENZYME SYSTEM; FEMALE; HUMANS; HYDROPHTHALMOS; INFANT; ISRAEL; LINKAGE (GENETICS); MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 75749149827     PISSN: 10570829     EISSN: None     Source Type: Journal    
DOI: 10.1097/IJG.0b013e3181a98b6f     Document Type: Article

References (13)

1. Rezaie T, Child A, Hitchings R, et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science. 2002;295:1077-1079.
2. Chalasani ML, Balasubramanian D, Swarup G. Focus on molecules: optineurin. Exp Eye Res. 2008;87:1-2.
3. Wiggs JL, Lynch S, Ynagi G, et al. A genome wide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12. Am J Hum Genet. 2004;74:1314-1320.
4. Sarfarazi M, Akarsu AN, Hossain A, et al. Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics. 1995;20:171-177.
5. Akarsu AN, Turacli ME, Aktan SG, et al. A second locus (GLC3B) for primary congenital glaucoma (buphthalmos) maps to the 1p36 region. Hum Mol Genet. 1996;5:1199-1203.
6. Gonzalez FJ. The molecular biology of cytochrome P450s. Pharmacol Rev. 1988;40:243-288.
7. Spink DC, Hayes CL, Young NR, et al. The effects of 2,3,7,8- tetrachlorodibenzo-p-dioxin on estrogen metabolism in MCF-7 breast cancer cells: evidence for induction of a novel 17 beta-estradiol 4-hydroxylase. J Steroid Biochem Mol Biol. 1994;51:251-258.
8. Bejjani BA, Lewis RA, Tomey KF, 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. 1998;62:325-333.
9. Harel T, Goldberg Y, Shalev SA, et al. Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation. Eur J Hum Genet. 2004;12:38-43.
10. Bejjani BA, Stockton DW, Lewis RA, 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. 2000;9:367-374.
11. Levy J, Tessler Z, Tamir O, et al. Primary congenital glaucoma: a review. Harefuah. 2004;143:876-880.
12. Levy J, Carmi R, Rosen R, et al. Primary congenital glaucoma presenting within the first three months of life: prognostic factors. J Glaucoma. 2005;14:139-144.
13. Chavarria-Soley G, Sticht H, Aklillu E, et al. Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. Hum Mutat. 2008;29:1147-1153.