A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene

American Journal of Ophthalmology

Volumn 135, Issue 3, 2003, Pages 368-375

  Honkanen, Robert A ^a   Nishimura, Darryl Y ^a   Swiderski, Ruth E ^a   Bennett, Steven R ^a   Hong, Sungpyo ^a   Kwon, Young H ^a   Stone, Edwin M ^a   Sheffield, Val C ^a   Alward, Wallace L M ^a,b  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; SERINE;

ADOLESCENT; ADULT; AGED; ANTERIOR EYE SEGMENT; ARTICLE; BLOOD SAMPLING; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; CONTROLLED STUDY; DNA SEQUENCE; FACE MALFORMATION; FAMILY STUDY; FEMALE; FOXC1 GENE; GENE; GENETIC SCREENING; GLAUCOMA; HEART DISEASE; HUMAN; MALE; MUTATIONAL ANALYSIS; OPHTHALMOLOGY; PETERS ANOMALY; PHENOTYPE; PITX2 GENE; POINT MUTATION; PRIORITY JOURNAL; RIEGER SYNDROME; SCHOOL CHILD; TOOTH MALFORMATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AGED; ANTERIOR EYE SEGMENT; CHILD; CORNEAL OPACITY; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EYE ABNORMALITIES; FACIAL BONES; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GLAUCOMA; HUMANS; IRIS; MALE; PEDIGREE; POINT MUTATION; SYNDROME; TOOTH ABNORMALITIES; TRANSCRIPTION FACTORS;

EID: 0037373710     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(02)02061-5     Document Type: Article

References (42)

1. Leske M.C. The epidemiology of open-angle glaucoma a review. Am J Epidemiol. 118:1983;166-191.
2. Stoilov I., Akarsu A.N., 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. 6:1997;641-647.
3. Nishimura D.Y., Swiderski R.E., Alward W.L., et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes, which map to 6p25. Nat Genet. 19:1998;140-147.
4. Semina E.V., Reiter R., Leysens N.J., et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RGS, involved in Rieger syndrome. Nat Genet. 14:1996;392-399.
5. Alward W.L.M., Semina E.V., Kalenak J.W., et al. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. Am J Ophthalmol. 125:1998;98-100.
6. Stone E.M., Fingert J.H., Alward W.L.M., et al. Identification of a gene that causes primary open angle glaucoma. Science. 275:1997;668-670.
7. Rezaie T., Child A., Hitchings R., et al. Adult-onset primary open-angle glaucoma caused by mutations in optineurin. Science. 295:2002;1077-1079.
8. Gould D.B., Mears A.J., Pearce W.G., Walter M.A. Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25. Am J Hum Genet. 61:1997;765-768.
9. Graff C., Jerndal T., Wadelius C. Fine mapping of the gene for autosomal dominant juvenile-onset glaucoma with iridogoniodysgenesis in 6p25-tel. Hum Genet. 101:1997;130-134.
10. Jordan T., Ebenezer N., Manners R., McGill J., Bhattacharya S. Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly. Am J Hum Genet. 61:1997;882-888.
11. Mears A.J., Mirzayans F., Gould D.B., Pearce W.G., Walter M.A. Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25. Am J Hum Genet. 59:1996;1321-1327.
12. Hromas R., Costa R. The hepatocyte nuclear factor-3/forkhead transcription regulatory family in development, inflammation, and neoplasia. Crit Rev Oncol Hematol. 20:1995;129-140.
13. Pierrou S., Hellqvist M., Samuelsson L., Enerback S., Carlsson P. Cloning and characterization of seven human forkhead proteins binding site specificity and DNA bending . EMBO J. 13:1994;5002-5012.
14. Mirzayans F., Gould D.B., Héon E., et al. Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. Eur J Hum Genet. 8:2000;71-74.
15. Barishal Y.R. Embryology of the eye and its adnexa. 2nd ed. 2001;Karger, Basel.
16. OzanicsV, Jakobiec FA. Prenatal development of the eye and its adnexa: In Jakobiec FA, editor. Ocular anatomy, embryology, and teratology. Philadelphia: Harper and Row, 1982:11-96.
17. Tripathi B.J., Tripathi R.C. Neural crest origin of human trabecular meshwork and its implications for the pathogenesis of glaucoma. Am J Ophthalmol. 107:1989;583-590.
18. Simola K.O., Knuutila S., Kaitila I., Pirkola A., Pohja P. Familial aniridia and translocation (t4;11)(q22;p13) without Wilms' tumor. Hum Genet. 63:1983;158-161.
19. Ton C.C.T., Hirvonen H., Miwa H., et al. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell. 67:1991;1059-1074.
20. Murray J.C., Bennett S.R., Kwitek A. Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet. 2:1992;46-49.
21. Phillips J.C., del Bono E.A., Haines J.L. A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet. 59:1996;613-619.
22. Héon E., Sheth B.P., Kalenak J.W., et al. Linkage of autosomal dominant iris hypoplasia to the Rieger syndrome locus (4q25). Hum Mol Genet. 4:1995;1435-1439.
23. Kulak S.C., Kozlowski K., Semina E.V., Pearce W.G., Walter M.A. Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. Hum Mol Genet. 7:1998;1113-1117.
24. Hanson I.M., Fletcher J.M., Jordan T., et al. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat Genet. 6:1994;168-173.
25. Doward W., Perveen R., Lloyd I.C., Ridgway A.E., Wilson L., Black G.C. A mutation in the RIEG1 gene associated with Peters' anomaly. J Med Genet. 36:1999;152-155.
26. Vincent A., Billingsley G., Priston M., et al. Phenotypic heterogeneity of CYP1B1 mutations in a patient with Peters' anomaly . J Med Genet. 38:2001;324-326.
27. Heon E., Mathers W.D., Alward W.L.M., et al. Linkage of posterior polymorphous corneal dystrophy to 20q11. Hum Mol Genet. 4:1995;485-488.
28. Akarsu A.N., Turacli M.E., Aktan S.G., et al. A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. Hum Mol Genet. 5:1996;1199-1203.
29. Sarfarazi M., Akarsu A.N., Hossain A., et al. Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence of genetic heterogeneity. Genomics. 30:1995;171-177.
30. Shields M.B., Buckley E., Klintworth G.K., Thresher R. Axenfeld-Rieger syndrome. A spectrum of developmental disorders. Surv Ophthalmol. 29:1985;387-409.
31. Alward W.L. Axenfeld-Rieger syndrome in the age of molecular genetics. Am J Ophthalmol. 130:2000;107-115.
32. Koster M., Dillinger K., Knochel W. Expression pattern of the winged helix factor XFD-11 during Xenopus embryogenesis. Mech Dev. 76:1998;169-173.
33. Cunningham E.T., Eliott D., Miller N.R., Maumenee I.H., Green W.R. Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss. Arch Ophthalmol. 116:1998;78-82.
34. Law C.J., Fisher A.M., Temple I.K. Distal 6p deletion syndrome a report of a case with anterior chamber eye anomaly and review of published reports . J Med Genet. 35:1998;685-689.
35. Tsai J.C., Grajewski A.L. Cardiac valvular disease and Axenfeld-Rieger syndrome. Am J Ophthalmol. 118:1994;255-256.
36. Mammi I., De Giorgio P., Clementi M., Tenconi R. Cardiovascular anomaly in Rieger syndrome: heterogeneity or contiguity? Acta Ophthalmol Scand. 76:1998;509-512.
37. Creazzo T.L., Godt R.E., Leatherbury L., Conway S.J., Kirby M.L. Role of cardiac neural crest cells in cardiovascular development. Annu Rev Physiol. 60:1998;267-286.
38. Waldo K., Miyagawa-Tomita S., Kumiski D., Kirby M.L. Cardiac neural crest cells provide new insight into septation of the cardiac outflow tract aortic sac to ventricular septal closure . Dev Biol. 196:1998;129-144.
39. Swiderski R.E., Reiter R.S., Nishimura D.Y., et al. Expression of the Mf1 gene in developing mouse hearts Implication in the development of human congenital heart defects . Dev Dyn. 216:1999;16-27.
40. Winnier G.E., Kume T., Deng K., et al. Roles for the winged helix transcription factors MF1 and MFH1 in cardiovascular development revealed by nonallelic noncomplementation of null alleles. Dev Biol. 213:1999;418-431.
41. Saleem R.A., Banerjee-Basu S., Berry F.B., Baxevanis A.D., Walter M.A. Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1. Am J Hum Genet. 68:2001;627-641.
42. Shields M.B. Axenfeld-Rieger syndrome a theory of mechanism and distinctions from the iridocorneal endothelial syndrome . Trans Am Ophthalmol Soc. 81:1983;736-784.