Axenfeld-Rieger anomaly: A novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family

Archives of Ophthalmology

Volumn 122, Issue 10, 2004, Pages 1527-1533

  Mortemousque, Bruno ^a   Amati Bonneau, Patrizia ^b   Couture, François ^c   Graffan, Rodolphe ^a   Dubois, Stéphane ^c   Colin, Joseph ^a   Bonneau, Dominique ^b   Morissette, Jean ^c   Lacombe, Didier ^a   Raymond, Vincent ^c  

^a BORDEAUX UNIVERSITY HOSPITAL   (France)

^b ANGERS UNIVERSITY HOSPITAL   (France)

^c LAVAL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR FKHR;

ADULT; ANTERIOR EYE CHAMBER; ARTICLE; CASE CONTROL STUDY; CHROMOSOME MAP; CLINICAL ARTICLE; EYE MALFORMATION; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC TRAIT; GLAUCOMA; HUMAN; LINKAGE ANALYSIS; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RIEGER SYNDROME;

ADULT; ANTERIOR CHAMBER; CASE-CONTROL STUDIES; DNA-BINDING PROTEINS; EYE ABNORMALITIES; FAMILY HEALTH; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GLAUCOMA; HUMANS; INFANT; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; TRANSCRIPTION FACTORS;

EID: 5044222938     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.122.10.1527     Document Type: Article

References (29)

1. Axenfeld Th. Embryotoxon cornea posterius. Klin Monatsbl Augenheilkd. 1920;65:381-382.
2. Rieger H. Verlagerung und Schlitzform der Pupille mit Hypoplasie des Irisvorderblattes. Z Augenheilkd. 1934;84:98-103.
3. Rieger H. Beiträge zur Kenntnis seltener Missblildungen der Iris, II: Über Hypoplasie des Irisvorderblattes mit Verlagerung und Entrundung der Pupille. Albrecht von Graefes Arch Klin Exp Ophthalmol. 1935;133:602-635.
4. Rieger H. Dysgenesis mesodermalis corneae et iridis. Z Augenheilkd. 1935;86:333.
5. Mathis H. Zahnunterzahl und Missbildungen der Iris. Z Stomatol. 1936;34:895-909.
6. Drum MA, Kaiser-Kupfer MI, Guckes AD, Roberts MW. Oral manifestations of the Rieger syndrome: report of a case. J Am Dent Assoc. 1985;110:343-346.
7. Friedman JM. Umbilical dysmorphology: the importance of contemplating the belly button. Clin Genet. 1985;28:343-347.
8. Nielsen F, Tranebjaerg L. A case of partial monosomy 21q22.2 associated with Rieger's syndrome. J Med Genet. 1984;21:218-221.
9. Murray JC, Bennett SR, Kwitek AE, et al. Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet. 1992;2:46-49.
10. Semina EV, Reiter R, Leysens NJ, et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet. 1996;14:392-399.
11. Amendt BA, Semina EV, Alward LM. Rieger syndrome: a clinical, molecular, and biochemical analysis. Cell Mol Life Sci. 2000;57:1652-1666.
12. Alward WL, Semina EV, Kalenak JW, Heon E, Sheth BP, Stone EM. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/ PITX2) gene. Am J Ophthalmol. 1998;125:98-100.
13. Kulak SC, Kozlowski K, Semina EV, Pearce WG, Walter MA. Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. Hum Mol Genet. 1998;7:1113-1117.
14. Doward W, Perveen R, Lloyd IC, Ridgway AE, Wilson L, Black GC. A mutation in the RIEG1 gene associated with Peters' anomaly. J Med Genet. 1999;36:152-155.
15. 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.
16. 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;63:1316-28.
17. Nishimura DY, Swiderski RE, Alward WL, et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet. 1998;19:140-147.
18. Kaestner KH, Knochel W, Martinez DE. Unified nomenclature for the winged helix/forkhead transcription factors. Genes Dev. 2000;14:142-146.
19. Nishimura DY, Searby CC, Alward WL, et al. A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am J Hum Genet. 2001;68:364-372.
20. Mirzayans F, Gould DB, Heon E, et al. Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. Eur J Hum Genet. 2000;8:71-4.
21. Lehmann OJ, Ebenezer ND, Jordan T, et al. Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma. Am J Hum Genet. 2000;67:1129-1135.
22. Dib C, Faure S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 1996;380:152-154.
23. O'Connell JR, Weeks DE. PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet. 1998;63:259-266.
24. Lathrop GM, Lalouel GM. Easy calculation of lod scores and genetic risk on small computers. Am J Hum Genet. 1984;36:460-465.
25. Kaufmann E, Knochel W. Five years on the wings of fork head. Mech Dev. 1996;57:3-20.
26. Smith RS, Zabaleta A, Kume T, et al. Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development. Hum Mol Genet. 2000;9:1021-1032.
27. Salem RA, Banerjee-Basu S, Berry FB, Baxevanis AD, Walter MA. 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. 2001;68:627-641.
28. Raymond V. Molecular genetics of the glaucomas: mapping of the first five "GLC" loci. Am J Hum Genet. 1997;60:272-277.
29. Quigley HA. Number of people with glaucoma worldwide. Br J Ophthalmol. 1996; 80:389-393.