Structural assessment of PITX2, FOXC1, CYP1B1, and GJA1 genes in patients with Axenfeld-Rieger syndrome with developmental glaucoma

Investigative Ophthalmology and Visual Science

Volumn 47, Issue 5, 2006, Pages 1803-1809

  Cella, Wener ^a,d   De Vasconcellos, José Paulo Cabral ^a   De Melo, Mônica Barbosa ^a,b   Kneipp, Bianca ^a   Costa, Fernando Ferreira ^a   Longui, Carlos Alberto ^b   Costa, Vital Paulino ^a,c  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b FACULDADE DE CIÊNCIAS MÉDICAS DA SANTA CASA DE SÃO PAULO   (Brazil)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

^d SQN 311 ^*  (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 43; CYTOCHROME P450 1B1; PROTEIN GJA1; TRANSCRIPTION FACTOR FOXC1; TRANSCRIPTION FACTOR PITX2; UNCLASSIFIED DRUG; CYP1B1 PROTEIN, HUMAN; CYTOCHROME P450; FORKHEAD TRANSCRIPTION FACTOR; FOXC1 PROTEIN, HUMAN; GJA1 PROTEIN, HUMAN; HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AXENFELD REIGER SYNDROME; BLOOD SAMPLING; BRAZIL; CLINICAL ARTICLE; DNA EXTRACTION; EYE EXAMINATION; FAMILY HISTORY; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GLAUCOMA; HUMAN; NONSENSE MUTATION; PRIORITY JOURNAL; ADOLESCENT; ADULT; ANTERIOR EYE SEGMENT; CHILD; CONGENITAL MALFORMATION; EYE MALFORMATION; FEMALE; GENETICS; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDROME;

ADOLESCENT; ADULT; ANTERIOR EYE SEGMENT; CHILD; CONNEXIN 43; CYTOCHROME P-450 ENZYME SYSTEM; DNA MUTATIONAL ANALYSIS; EYE ABNORMALITIES; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GLAUCOMA; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME; TRANSCRIPTION FACTORS;

EID: 33744722057     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.05-0979     Document Type: Article

References (44)

1. Alkemade PPH. Dysgenesis Mesodermalis of the Iris and Cornea. Assen, The Netherlands: Van Gorcum ad Comp NV; 1969.
2. Shields MB. Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome. Trans Am Ophthalmol Soc. 1983;81:736-784.
3. Shields MB, Buckley E, Klintworth GK, et al. Axenfeld-Rieger syndrome. A spectrum of developmental disorders. Surv Ophtalmol. 1985;29:387-409.
4. Jorgenson RJ, Levin LS, Cross HE, et al. The Rieger syndrome. Am J Med Genet. 1978;2:307-318.
5. Cross HE, Jorgenson RJ, Levin LS, et al. The Rieger syndrome: an autosomal dominant disorder with ocular, dental and systemic abnormalities. Perspect Ophthalmol. 1979;3:3-16.
6. Lubin JR. Oculocutaneous albinism associated with corneal mesodermal dysgenesis. Am J Ophthalmol. 1981;91:347-350.
7. Semina EV, Reiter R, Leysens NJ, et al. Cloning and characterization of a novel bicoid-related transcription factor gene, RGS, involved in Rieger syndrome. Nat Genet. 1996;14:392-399.
8. Espinoza HM, Cox CJ, Semina EV, et al. A molecular basis for differential developmental anomalies in Axenfeld-Rieger syndrome. Hum Mol Genet. 2002;11:743-753.
9. Nishimura DY, Swiderski RE, Alward WLM, et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet. 1998;19:140-147.
10. Riise R, Storhaug K, Brondum-Nielsen K. Rieger syndrome is associated with PAX6 deletion. Acta Ophthalmol Scand. 2001;79:201-203.
11. Ferguson JG Jr, Hicks EL. Rieger's anomaly and glaucoma associated with partial trisomy 16q: case report. Arch Ophthalmol. 1987;105:323.
12. Jamieson RV, Perveen R, Kerr B, et al. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum Mol Genet. 2000;11:32-42.
13. Phillips JC, del Bono EA, Haines JL, et al. A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet. 1996;59:613-619.
14. Stoilov I, Arkasu AN, Sarfarazi M. Identification of three 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.
15. 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.
16. Edward DP, Rajhi AA, Lewis RA, et al. Molecular basis of Peters anomaly in Saudi Arabia. Ophthalmic Genet. 2004;25:257-270.
17. Churchill AJ, Yeung A. A compound heterozygous change found in Peters' anomaly. Mol Vis. 2005;11:66-70.
18. 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.
19. Paznekas WA, Boyadjiev SA, Shapiro RE, et al. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet. 2003;72:408-418.
20. Stoilov IR, Costa VP, Vasconcellos JPC, et al. Molecular genetics of primary congenital glaucoma in Brazil. Invest Ophthalmol Vis Sci. 2002;43:1820-1827.
21. Mashima Y, Suzuki Y, Sergeev Y, et al. Novel cytochrome P450B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma. Invest Ophthalmol Vis Sci. 2001;42:2211-2216.
22. Alward WLM. Axenfeld-Rieger syndrome in the age of molecular genetics. Am J Ophthalmol. 2000;130:107-115.
23. Vaux C, Sheffield L, Keith CG, et al. Evidence that Rieger syndrome maps to 4q25 or 4q27. J Med Genet. 1992;29:256-258.
24. Perveen R, Lloyd IC, Clayton-Smith J, et al. Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. Invest Ophthalmol Vis Sci. 2000;41:2456-2460.
25. Priston M, Kozlowski K, Gill D, et al. Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. Hum Mol Genet. 2001;10:1631-1638.
26. Lines MA, Kozlowski K, Kulak SC, et al. Characterization and prevalence of PITX2 microdeletions and mutations in Axenfeld-Rieger malformations. Invest Ophthalmol Vis Sci. 2004;45:829-833.
27. Borges AS, Susanna-Junior R, Carani JCE, et al. Genetic analysis of PITX2 and FOXC1 in Rieger syndrome patients from Brazil. J Glaucoma. 2002;11:51-56.
28. Kulak SC, Kozlowski K, Semina EV, et al. Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. Hum Mol Genet. 1998;7:1113-1117.
29. Alward WLM, Semina EV, Kalenak JW, et al. Autosomal dominant iris hipoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. Am J Ophthalmol. 1998;125:98-100.
30. Amendt BA, Sutherland LB, Semina EV, et al. The molecular basis of Rieger syndrome. Analysis of PITX2 homeodomain protein activities. J Biol Chem. 1998;273:20066-20072.
31. Kozlowski K, Walter MA. Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders. Hum Mol Genet. 2000;9:2131-2139.
32. Saadi I, Semina EV, Amendt BA, et al. Identification of a dominant negative homeodomain mutation in Rieger syndrome. J Biol Chem. 2001;276:23034-23041.
33. Phillips JC. Four novel mutations in the PITX2 gene in patients with Axenfeld-Rieger syndrome. Ophthalmic Res. 2002;34:324-326.
34. Brooks BP, Moroi SE, Downs CA, et al. A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome. Ophthalmic Genet. 2004;25:57-62.
35. 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.
36. Mirzayans F, Gould DB, Héon E, et al. Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. Eur J Hum Genet. 2000;8:71-74.
37. Saleem RA, Murphy TC, Liebmann JM, et al. Identification and analysis of a novel mutation in the FOXC1 forkhead domain. Invest Ophthalmol Vis Sci. 2003;44:4608-4612.
38. Murphy TC, Saleem RA, Footz T, et al. The wing 2 region of the FOXC1 forkhead domain is necessary for normal DNA-binding and transactivation functions. Invest Ophthalmol Vis Sci. 2004;45:2531-2538.
39. Mortemousque B, Amati-Bonneau P, Couture F, et al. Axenfeld-Rieger anomaly, a novel mutation in the Forkhead Box C1 (FOXC1) gene in a 4-generation family. Arch Ophthalmol. 2004;122:1527-1533.
40. Komatireddy S, Chakrabarti S, Mandal AK, et al. Mutation spectrum of FOXC1 and clinical genetic heterogeneity of Axenfeld-Rieger anomaly in India. Mol Vis. 2003;9:43-48.
41. Honkanen RA, Nishimura DY, Swiderski RE, et al. A family with Axenfeld-Rieger syndrome and Peters anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene. Am J Ophthalmol. 2003;135:368-375.
42. Bejjani BA, Lewis RA, Tomey KF, et al. Mutations in CYP1B1, the gene for cytochrome P450B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am J Hum Genet. 1998;62:325-333.
43. 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.
44. Johnson EC, Deppmeier LM, Wentzien SK, et al. Chronology of optic nerve head and retinal responses to elevated intraocular pressure. Invest Ophthalmol Vis Sci. 2000;41:431-442.