Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: A pilot study

Molecular Vision

Volumn 15, Issue , 2009, Pages 1325-1331

  El Gayar, Stefan ^a   Ganesh, Anuradha ^a   Chavarria Soley, Gabriela ^b   Al Zuhaibi, Sana ^a   Al Mjeni, Rayhanah ^a   Raeburn, Sandy ^a   Bialasiewicz, Alexander A ^a  

^a SULTAN QABOOS UNIVERSITY HOSPITAL   (Oman)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 1B1; GENOMIC DNA;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CAUSAL ATTRIBUTION; CHILD; CLINICAL ARTICLE; CONGENITAL GLAUCOMA; CONSANGUINITY; DNA SEQUENCE; FAMILY STUDY; FEMALE; GENE AMPLIFICATION; GENE SEGREGATION; GENEALOGY; GENETIC HETEROGENEITY; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; MUTATION RATE; MUTATIONAL ANALYSIS; OMAN; PEDIGREE ANALYSIS; PILOT STUDY; PRESCHOOL CHILD; PRIMARY GLAUCOMA; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; ARYL HYDROCARBON HYDROXYLASES; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; FEMALE; GLAUCOMA; HAPLOTYPES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OMAN; PEDIGREE; PILOT PROJECTS;

EID: 67650514321     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

1. Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Dueker DK, Jabak M, Astle WF, Lupski JR. 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; 9:367-74.
2. Ho CL, Walton DS. Primary congenital glaucoma: 2004 update. J Pediatr Ophthalmol Strabismus 2004; 41:271-88.
3. Kolker AE, Hetherington J. Congenital glaucoma. In: Stamper R, Lieberman M, Drake M, editors. Becker- Shaffer's Diagnosis and Therapy of the Glaucomas. 5th ed. St. Louis: CV Mosby; 1983. p. 317-369.
4. DeLuise VP, Anderson DR. Primary infantile glaucoma (congenital glaucoma). Surv Ophthalmol 1983; 28:1-19.
5. Badeeb OM. Trabeculectomy with Mitomycin-C versus trabeculectomy with 5-Fluorouracil for the treatment of childhood glaucoma. Oman J Ophthalmol 2008; 1:7-12.
6. Mullaney PB, Selleck C, Al-Awad A, Al-Mesfer S, Zwaan J. Combined trabeculotomy and trabeculectomy as an initial procedure in uncomplicated Congenital glaucoma. Arch Ophthalmol 1999; 117:457-60.
7. Hewitt AW, Mackinnon JR, Elder JE, Giubilato A, Craig JE, Mackey DA. Familial transmission patterns of infantile glaucoma in Australia. ARVO Annual Meeting; 2005 May 1-5; Fort Lauderdale (FL).
8. Sarfarazi M, Akarsu AN, Hossain A, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS. Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics 1995; 30:171-7.
9. 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; 6:641-7.
10. Akarsu AN, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS, Sarfarazi M. A second locus (GLC3B) for primary congenital glaucoma (buphthalmos) maps to the 1p36 region. Hum Mol Genet 1996; 5:1199-203.
11. Stoilov IR, Costa VP, Vasconcellos JP, Melo MB, Betinjane AJ, Carani JC, Oltrogge EV, Sarfarazi M. Molecular genetics of primary congenital glaucoma in Brazil. Invest Ophthalmol Vis Sci 2002; 43:1820-7.
12. Schwartzman ML, Balazy M, Masferrer J, Abraham NG, McGiff JC, Murphy RC. 12(R)-hydroxyicosatetraenoic acid: a cytochrome P450-dependent arachidonate metabolite that inhibits Na+,K+-ATPase in the cornea. Proc Natl Acad Sci USA 1987; 84:8125-9.
13. Vasiliou V, Gonzalez FJ. Role of CYP1B1 in glaucoma. Annu Rev Pharmacol Toxicol 2008; 48:333-58.
14. Chavarria-Soley G, Michels-Rautenstrauss K, Pasutto F, Flikier D, Flikier P, Cirak S, Bejjani B, Winters DL, Lewis RA, 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; 12:523-31.
15. Rajab A, Patton MA. A study of consanguinity in the Sultanate of Oman. Ann Hum Biol 2000; 27:321-6.
16. Chavarria-Soley G, Michels-Rautenstrauss K, Caliebe A, Kautza M, Mardin C, Rautenstrauss B. Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD). J Glaucoma 2006; 15:499-504.
17. Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, Astle WF, Otterud B, Leppert M, Lupski JR. Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am J Hum Genet 1998; 62:325-33.
18. Chavarria-Soley G, Sticht H, Aklillu E, Ingelman-Sundberg M, Pasutto F, Reis A, Rautenstrauss B. Mutations in CYP1B1 cause primary congenital glaucoma by reduction of either activity or abundance of the enzyme. Hum Mutat 2008; 29:1147-53.
19. Plasilova M, Stoilov I, Sarfarazi M, Kadasi L, Ferakova E, Ferak V. Identification of a single ancestral CYP1B1 mutation in Slovakgypsies (Roms) affected with primary congenital glaucoma. J Med Genet 1999; 36:290-4.
20. 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; 42:2211-6.
21. Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 2003; 21:577-81.
22. Chakrabarti S, Kaur K, Kaur I, Mandal AK, Parikh RS, Thomas R, Majumder PP. Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds. Invest Ophthalmol Vis Sci 2006; 47:43-7.