Novel CYP1B1 and known PAX6 mutations in anterior segment dysgenesis (ASD)

Journal of Glaucoma

Volumn 15, Issue 6, 2006, Pages 499-504

  Chavarria Soley, Gabriela ^a   Michels Rautenstrauss, Karin ^a   Caliebe, Almuth ^c   Kautza, Monika ^c   Mardin, Christian ^b   Rautenstrauss, Bernd ^a  

^a UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^c UNIVERSITY OF KIEL   (Germany)

Author keywords

Anterior segment dysgenesis; CYP1B1; FOXC1; PAX6; Peters anomaly; PITX2; Rieger anomaly

Indexed keywords

CYTOCHROME P450 1B1; PRIMER DNA; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXC1; TRANSCRIPTION FACTOR PAX6; TRANSCRIPTION FACTOR PITX2; UNCLASSIFIED DRUG;

ADULT; ANALYTICAL EQUIPMENT; ANIRIDIA; ANTERIOR EYE SEGMENT; ANTERIOR EYE SEGMENT DYSGENESIS; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; EYE DISEASE; EYE MALFORMATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC CODE; GENETIC DISORDER; GENETIC SCREENING; GONIOSCOPY; HUMAN; INTRON; MICROSCOPY; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; PATHOPHYSIOLOGY; PETERS ANOMALY; PRIMARY GLAUCOMA; PRIORITY JOURNAL; RETINA EXAMINATION; RIEGER SYNDROME; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SLIT LAMP;

AMINO ACID SEQUENCE; ANTERIOR EYE SEGMENT; BASE SEQUENCE; CYTOCHROME P-450 ENZYME SYSTEM; DNA MUTATIONAL ANALYSIS; EYE ABNORMALITIES; EYE PROTEINS; FORKHEAD TRANSCRIPTION FACTORS; HOMEODOMAIN PROTEINS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; POLYMERASE CHAIN REACTION; REPRESSOR PROTEINS; SEQUENCE DELETION; TRANSCRIPTION FACTORS;

EID: 33751065707     PISSN: 10570829     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.ijg.0000243467.28590.6a     Document Type: Article

References (34)

1. Gould DB, John SW. Anterior segment dysgenesis and the developmental glaucomas are complex traits. Hum Mol Genet. 2002;11:1185-1193.
2. Lines MA, Kozlowski K, Walter MA. Molecular genetics of Axenfeld-Rieger malformations. Hum Mol Genet. 2002;11:1177-1184.
3. Sarfarazi M. Recent advances in molecular genetics of glaucomas. Hum Mol Genet. 1997;6:1667-1677.
4. 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. 1999;36:290-294.
5. Vincent A, Billingsley G, Priston M, et al. Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. J Med Genet. 2001;38:324-326.
6. Edward D, Al Rajhi A, Lewis RA, et al. Molecular basis of Peters anomaly in Saudi Arabia. Ophthalmic Genet. 2004;25:257-270.
7. Churchill AJ, Yeung A. A compound heterozygous change found in Peters' anomaly. Mol Vis. 2005;11:66-70.
8. Panicker SG, Sampath S, Mandal AK, et al. Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly. Invest Ophthalmol Vis Sci. 2002;43:3613-3616.
9. Stoilov IR, Costa VP, Vasconcellos JP, et al. Molecular genetics of primary congenital glaucoma in Brazil. Invest Ophthalmol Vis Sci. 2002;43:1820-1827.
10. Colomb E, Kaplan J, Garchon HJ. Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France. Hum Mutat. 2003;22:496.
11. Michels-Rautenstrauss KG, Mardin CY, Zenker M, et al. Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene. J Glaucoma. 2001;10:354-357.
12. Soley GC, Bosse KA, Flikier D, et al. Primary congenital glaucoma: a novel single-nucleotide deletion and varying phenotypic expression for the 1,546-1,555dup mutation in the GLC3A (CYP1B1) gene in 2 families of different ethnic origin. J Glaucoma. 2003;12:27-30.
13. Sena DF, Finzi S, Rodgers K, et al. Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil. J Med Genet. 2004;41:e6.
14. 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.
15. Panicker SG, Reddy AB, Mandal AK, et al. Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees. Invest Ophthalmol Vis Sci. 2002;43:1358-1366.
16. Reddy AB, Panicker SG, Mandal AK, et al. Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients. Invest Ophthalmol Vis Sci. 2003;44:4200-4203.
17. Chavarria-Soley G, Michels-Rautenstrauss K, Pasutto F, et al. Primary congenital glaucoma and Rieger's anomaly: extended haplotypes reveal founder effects for eight distinct CYP1B1 mutations. Mol Vis. 2006;12:523-531.
18. Mears AJ, Jordan T, Mirzayans F, et al. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet. 1998;63:1316-1328.
19. Werck-Reichhart D, Feyereisen R. Cytochromes P450: a success story. Genome Biol. 2000;1:REVIEWS3003.
20. Hasemann CA, Kurumbail RG, Boddupalli SS, et al. Structure and function of cytochromes P450: a comparative analysis of three crystal structures. Structure. 1995;3:41-62.
21. 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.
22. Vincent AL, Billingsley G, Buys Y, et al. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet. 2002;70:448-460.
23. Melki R, Colomb E, Lefort N, et al. CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J Med Genet. 2004;41:647-651.
24. Vincent A, Billingsley G, Priston M, et al. Further support of the role of CYP1B1 in patients with Peters anomaly. Mol Vis. 2006;12:506-510.
25. Shimada T, Watanabe J, Kawajiri K, et al. Catalytic properties of polymorphic human cytochrome P450 1B1 variants. Carcinogenesis. 1999;20:1607-1613.
26. Tang YM, Green BL, Chen GF, et al. Human CYP1B1 Leu432Val gene polymorphism: ethnic distribution in African-Americans, Caucasians and Chinese; oestradiol hydroxylase activity; and distribution in prostate cancer cases and controls. Pharmacogenetics. 2000;10:761-766.
27. Hanna IH, Dawling S, Roodi N, et al. Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity. Cancer Res. 2000;60:3440-3444.
28. Li DN, Seidel A, Pritchard MP, et al. Polymorphisms in P450 CYP1B1 affect the conversion of estradiol to the potentially carcinogenic metabolite 4-hydroxyestradiol. Pharmacogenetics. 2000;10:343-353.
29. Aklillu E, Ovrebo S, Botnen IV, et al. Characterization of common CYP1B1 variants with different capacity for benzo[a]pyrene-7, 8-dihydrodiol epoxide formation from benzo[a]pyrene. Cancer Res. 2005;65:5105-5111.
30. Mammen JS, Pittman GS, Li Y, et al. Single amino acid mutations, but not common polymorphisms, decrease the activity of CYP1B1 against (-)benzo[a]pyrene-7R-trans-7,8-dihydrodiol. Carcinogenesis. 2003;24:1247-1255.
31. Aklillu E, Oscarson M, Hidestrand M, et al. Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population. Mol Pharmacol. 2002;61:586-594.
32. Glaser T, Jepeal L, Edwards JG, et al. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet. 1994;7:463-471.
33. Martha A, Strong LC, Ferrell RE, et al. Three novel aniridia mutations in the human PAX6 gene. Hum Mutat. 1995;6:44-49.
34. 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.