Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

European Journal of Human Genetics

Volumn 17, Issue 12, 2009, Pages 1527-1539

  Tümer, Zeynep ^a   Bach Holm, Daniella ^a,b  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA ADRENERGIC RECEPTOR STIMULATING AGENT; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CARBONATE DEHYDRATASE INHIBITOR; TRANSCRIPTION FACTOR FOXC1; TRANSCRIPTION FACTOR PITX2;

ANTERIOR EYE CHAMBER ANGLE; AUTOSOMAL DOMINANT DISORDER; AXENFELD RIEGER SYNDROME; CHROMOSOME ABERRATION; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; CORNEA DISEASE; CRANIOFACIAL MALFORMATION; DIFFERENTIAL DIAGNOSIS; EMBRYOLOGY; ENDOTHELIAL DYSFUNCTION; EYE DISEASE; EYE EXAMINATION; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE TRANSLOCATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC DISORDER; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; GLAUCOMA; GONIOSCOPY; HUMAN; HYPOPLASIA; NONHUMAN; OPHTHALMOSCOPY; PETERS ANOMALY; PHENOTYPE; PHOTOPHOBIA; PRIMARY GLAUCOMA; PRIORITY JOURNAL; REVIEW; SLIT LAMP; TOOTH MALFORMATION; TRABECULECTOMY;

ABNORMALITIES, MULTIPLE; ANIMALS; ANTERIOR EYE SEGMENT; FORKHEAD TRANSCRIPTION FACTORS; HOMEODOMAIN PROTEINS; HUMANS; MUTATION; SYNDROME; TRANSCRIPTION FACTORS;

EID: 70549088923     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2009.93     Document Type: Review

References (76)

1. Shields MB: AxenfeldARieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome. Trans Am Ophthalmol Soc 1983; 81: 736-784.
2. Alward WLM: Axenfeld-Rieger syndrome in the age of molecular genetics. Am J Ophthalmol 2000; 130: 107-115.
3. Idrees F, Vaideanu D, Fraser SG, Sowden JC, Khaw PT: A review of anterior segment dysgeneses. Surv Ophthalmol 2006; 51: 213-231.
4. Sim KT, Krri B, Kaye SB: Posterior embryotoxon may not be a forme fruste of Axenfeld-Rieger's syndrome. J AAPOS 2004; 8: 504-506.
5. Burian HM, Rice MH, Allen L: External visibility of the Schlemm's canal. Arch Ophthalmol 1957; 57: 651-658.
6. Townsend WM: Congenital corneal leukomas. Am J Ophthalmol 1974; 77: 80-86.
7. Tripathy BJ, Tripathy RC: Neural crest origin of human trabecular meshwork and its implications for the pathogenesis of glaucoma. Am J Ophthalmol 1989; 107: 583-590.
8. Sowden JC: Molecular and developmental mechanisms of anterior segment dysgenesis. Eye 2007; 21: 1310-1318.
9. 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.
10. 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.
11. 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.
12. Stathacopoulos RA, Bateman JB, Sparkes RS et al: The Rieger syndrome and a chromosome 13 deletion. J Pediatr Ophthalmol Strabismus 1987; 24: 198-203.
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. Werner W, Kraft S, Callen DF, Bartsch O, Hinkel GK: A small deletion of 16q23.1→416q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2) (D16S395+, D16S348-, P5432+)] in a boy with iris coloboma and minor anomalies. Am J Med Genet 1997; 70: 371-376.
15. Riise R, Storhaug K, Brondum-Nielsen K: Rieger syndrome is associated with PAX6 deletion. Acta Ophthalmol Scand 2001; 79: 201-203.
16. Hjalt TA, Semina EV: Current molecular understanding of Axenfeld-Rieger syndrome. Expert Rev Mol Med 2005; 7: 1-17.
17. Amendt BA, Aemina EV, Alward WL: Rieger syndrome: a clinical, molecular, and biochemical analysis. Cell Mol Life Sci 2000; 57: 1652-1666.
18. Cox CJ, Espinoza HM, McWilliams B et al: Differential regulation of gene expression by PITX2 isoforms. J Biol Chem 2002; 277: 25001-25010.
19. Lehmann OJ, Sowden JC, Carlsson P, Jordan T, Bhattacharya SS: Fox's in development and disease. Trends Genet 2003; 19: 339-344.
20. Berry FB, Lines MA, Oas JM et al: Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis. Hum Mol Genet 2006; 15: 905-919.
21. Den Dunnen JT, Antonorakis SE: Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion. Hum Mutat 2000; 15: 7-12.
22. Makita Y, Masuno M, Imaizumi K et al: Rieger syndrome with de novo reciprocal translocation t(1; 4)(q23.1D5). Am J Med Genet 1995; 57: 19-21.
23. Datson NA, Semina E, van Staalduinen AA et al: Closing in on the Rieger syndrome gene on 4q25: Mapping translocation breakpoints within a 50-kb region. Am J Hum Genet 1996; 59: 1297-1305.
24. Flomen RH, GormanAPA, Vatcheva R et al: Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193. J Med Genet 1997; 34: 191-195.
25. Kamnasaran D, O'Brien PC, Zackai EH et al: Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome. Eur J Hum Genet 2003; 11: 315-324.
26. Trembath DG, Semina EV, Jones DH et al: Analysis of two translocation breakpoints and identification of a negative regulatory element in patients with Rieger's syndrome. Birth Defects Res A Clin Mol Teratol 2004; 70: 82-91.
27. Karadeniz NN, Kocak-Midillioglu I, Erdogan D et al: Is SHORT syndrome another phenotypic variation of PITX2? Am J Med Genet A 2004; 130: 406-409.
28. Engenheiro E, Saraiva J, Carreira I et al: Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome. Clin Genet 2007; 72: 464-470.
29. Mihelec M, St Heaps L, Flaherty M et al: Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma. Twin Res Hum Genet 2008; 11: 412-421.
30. Serville F, Broustet A: Pericentric inversion and partial monosomy 4q associated with congenital anomalies. Hum Genet 1977; 39: 239-242.
31. Mitchell JA, Packman S, Loughman WD et al: Deletions of different segments of the long arm of chromosome 4. Am J Med Genet 1981; 8: 73-89.
32. Chudley AE, Verna MR, Ray M et al: Interstitial deletion of the long arm of chromosome 4. Am J Med Genet 1988; 31: 549-551.
33. Raczenbek C, Krassikoff N, Cosper P: Second case report of del(4) (q25q27) and review of the literature. Clin Genet 1991; 39: 463-466.
34. Fryns JP, van den Berghe H: Rieger syndrome and interstitial 4q26 deletion. Genet Couns 1992; 3: 153-154.
35. Vaux C, Sheffield L, Keith CG, Voullaire L: Evidence that Rieger syndrome maps to 4q25 or 4q27. J Med Genet 1992; 29: 256-258.
36. Kulharya AS, Maberry M, Kukolich MK et al: Interstitial deletions 4q21.1q25 and 4q25q27: Phenotypic variability and relation to Rieger anomaly. Am J Med Genet 1995; 55: 165-170.
37. Schinzel A, Brecevic L, Dutly F, Baumer A, Binkert F, Largo RH: Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25->4q27) secondary to a balanced insertion in his normal father: Evidence for haplotype insufficiency causing the Rieger malformation. J Med Genet 1997; 34: 1012-1014.
38. Lines MA, Kozlowski K, Walter MA: Molecular genetics of Axenfeld-Rieger malformations. Hum Mol Genet 2002; 11: 1177-1184.
39. Becker SA, Popp S, Rager K, Jauch A: A new case of an interstitial deletion (4)(q25q27) characterised by molecular cytogenetic techniques and review of the literature. Eur J Pediatr 2003; 162: 267-270.
40. Velinov M, Gu H, Yeboa K et al: Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4;21 translocation. Am J Med Genet 2002; 107: 330-333.
41. 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.
42. Alward WL, Semina EV, Kalenak JW et al: Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. Am J Ophthalmol 1998; 125: 98-100.
43. Kulak SC, Kozlowski K, Semina EV, Pearce WG, Walter MA: Mutation in the RIEG1 gene in patients with iridogoniodys-genesis syndrome. Hum Mol Genet 1998; 7: 1113-1117.
44. Xia K,Wu L, Liu X et al: Mutation in PITX2 is associated with ring dermoid of the cornea. J Med Genet 2004; 41: E129.
45. Gould DB, Jaafar MS, Addison MK et al: Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment. BMC Med Genet 2004; 5 17.
46. Chanda B, Asai-Coakwell M, Ye M et al: A novel mechanistic spectrum underlies glaucoma associated chromosome 6p25 copy number variation. Hum Mol Genet 2008; 17: 3446-3458, Aug 11 (E-pub ahead of print).
47. Le Caignec C, De Mas P, Vincent MC et al: Subtelomeric 6p deletion: Clinical, FISH, and array CGH characterization of two cases. Am J Med Genet A 2005; 132A: 175-180.
48. Descipio C, Schneider L, Young TL et al: Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. Am J Med Genet A 2005; 134A: 3-11.
49. 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.
50. 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.
51. Lehmann OJ, Ebenezer ND, Ekong R et al: Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions. Invest Ophthalmol Vis Sci 2002; 43 1843-1849.
52. 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.
53. Weisschuh N, Wolf C, Wissinger B, Gramer E: A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly. Clin Genet 2008; 74: 476-480, May 21(Epub ahead of print).
54. Chakrabarti S, Kaur K, Rao KN et al: The transcirption factor gene FOXC1 exhibits a limited role in primary congenital glaucoma. Invest Ophthal Vis Sci 2009; 50: 75-83.
55. Khan A, Aldahmesh MA, Al-Amri A: Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother. Ophthalmic Genet 2008; 29: 67-71.
56. Flomen RH, Vatcheva R, Gorman PA et al: Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene. Genomics 1998; 47: 409-413.
57. Kleinjan DA, Lettice LA: Chapter 13 long-range gene control and genetic disease. Adv Genet 2008; 61: 339-388.
58. Davies AF, Mirza G, Sekhon G et al: Delineation of two distinct 6p deletion syndromes. Hum Genet 1999; 104: 64-72.
59. Gage PJ, Suh H, Camper SA: Dosage requirement of Pitx2 for development of multiple organs. Development 1999; 126: 4643-4651.
60. Lin CR, Kioussi C, O'Connell S et al: Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis. Nature 1999; 401: 279-282.
61. Lu MF, Pressman C, Dyer R, Johnson RL, Martin JF: Function of Rieger syndrome gene in left-right asymmetry and craniofacial development. Nature 1999; 401: 276-278.
62. Holmberg J, Liu CY, Hjalt TA: PITX2 gain-of-function in Rieger syndrome eye model. Am J Pathol 2004; 165: 1633-1641.
63. Kume T, Deng KY, Winfrey V, Gould DB, Walter MA, Hogan BL: The forkhead/ winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus. Cell 1998; 93: 985-996.
64. 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.
65. Swiderski RE, Reiter RS, Nishimura DY et al: Expression of the Mf1 gene in developing mouse hearts: Implication in the development of human congenital heart defects. Dev Dyn 1999; 216: 16-27.
66. Winnier GE, 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 1999; 213: 418-431.
67. 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.
68. 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.
69. Strungaru MH, Dinu I, Walter MA: Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations. Invest Ophthalmol Vis Sci 2007; 48: 228-237.
70. de la Houssaye G, Bieche I, Roche O et al: Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger syndrome: Case report. BMC Med Genet 2006; 7: 82.
71. Enyedi LB, Freedman SF: Safety and efficacy of brimonidine in children with glaucoma. J AAPOS 2001; 5: 281-284.
72. Alward WLM: Axenfeld-Rieger syndrome in the Age of Molecular Genetics. Am J Ophthalmol 2000; 130: 107-115.
73. Amendt BA, Aemina EV, Alward WL: Rieger syndrome: a clinical, molecular, and biochemical analysis. Cell Mol Life Sci 2000; 57: 1652-1666.
74. Hjalt TA, Semina EV: Current molecular understanding of Axenfeld-Rieger syndrome. Expert Rev Mol Med 2005; 7: 1-17.
75. Idrees F, Vaideanu D, Fraser SG, Sowden JC, Khaw PT: A review of anterior segment dysgeneses. Survey of Ophthalmol 2006; 51: 213-231.
76. Sowden JC: Molecular and developmental mechanisms of anterior segment dysgenesis. Eye 2007; 21: 1310-1318.