Journal of Pediatrics Review

Published by: Kowsar

A Clinical and Genetic Review of Aniridia

Reza Jafari 1 , * and Ahmad Ahmadzadeh Amiri 1
Authors Information
1 Department of Ophthalmology, Bouali Sina Hospital, Mazandaran University of Medical Sciences, Sari, IR Iran
Article information
  • Journal of Pediatrics Review: July 28, 2015, 3 (2); e241
  • Published Online: July 20, 2015
  • Article Type: Review Article
  • Received: January 10, 2015
  • Revised: April 20, 2015
  • Accepted: April 30, 2015
  • DOI: 10.17795/jpr-241

To Cite: Jafari R, Ahmadzadeh Amiri A. A Clinical and Genetic Review of Aniridia, J Pediatr Rev. 2015 ;3(2):e241. doi: 10.17795/jpr-241.

Abstract
Copyright © 2015, Mazandaran University of Medical Sciences.This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Context
2. Evidence Acquisition
3. Results
4. Conclusions
Footnotes
References
  • 1. Ton CC, Hirvonen H, Miwa H, Weil MM, Monaghan P, Jordan T, et al. Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. Cell. 1991; 67(6): 1059-74[PubMed]
  • 2. Nelson LB, Spaeth GL, Nowinski TS, Margo CE, Jackson L. Aniridia. A review. Surv Ophthalmol. 1984; 28(6): 621-42[PubMed]
  • 3. Kokotas H, Petersen MB. Clinical and molecular aspects of aniridia. Clin Genet. 2010; 77(5): 409-20[DOI][PubMed]
  • 4. Ramaesh K, Ramaesh T, Dutton GN, Dhillon B. Evolving concepts on the pathogenic mechanisms of aniridia related keratopathy. Int J Biochem Cell Biol. 2005; 37(3): 547-57[DOI][PubMed]
  • 5. Glaser T, Walton DS, Maas RL. Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene. Nat Genet. 1992; 2(3): 232-9[DOI][PubMed]
  • 6. Prosser J, van Heyningen V. PAX6 mutations reviewed. Hum Mutat. 1998; 11(2): 93-108[PubMed]
  • 7. Kondo-Saitoh A, Matsumoto N, Sasaki T, Egashira M, Saitoh A, Yamada K, et al. Two nonsense mutations of PAX6 in two Japanese aniridia families: case report and review of the literature. Eur J Ophthalmol. 2000; 10(2): 167-72[PubMed]
  • 8. Jordan T, Hanson I, Zaletayev D, Hodgson S, Prosser J, Seawright A, et al. The human PAX6 gene is mutated in two patients with aniridia. Nat Genet. 1992; 1(5): 328-32[DOI][PubMed]
  • 9. Gessler M, Simola KO, Bruns GA. Cloning of breakpoints of a chromosome translocation identifies the AN2 locus. Science. 1989; 244(4912): 1575-8[PubMed]
  • 10. Mannens M, Bleeker-Wagemakers EM, Bliek J, Hoovers J, Mandjes I, van Tol S, et al. Autosomal dominant aniridia linked to the chromosome 11p13 markers catalase and D11S151 in a large Dutch family. Cytogenet Cell Genet. 1989; 52(1-2): 32-6[PubMed]
  • 11. Lee H, Khan R, O'Keefe M. Aniridia: current pathology and management. Acta Ophthalmol. 2008; 86(7): 708-15[DOI][PubMed]
  • 12. Fantes JA, Bickmore WA, Fletcher JM, Ballesta F, Hanson IM, van Heyningen V. Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization. Am J Hum Genet. 1992; 51(6): 1286-94[PubMed]
  • 13. Brown A, McKie M, van Heyningen V, Prosser J. The Human PAX6 Mutation Database. Nucleic Acids Res. 1998; 26(1): 259-64[PubMed]
  • 14. Tzoulaki I, White IM, Hanson IM. PAX6 mutations: genotype-phenotype correlations. BMC Genet. 2005; 6: 27[DOI][PubMed]
  • 15. Fisher E, Scambler P. Human haploinsufficiency--one for sorrow, two for joy. Nat Genet. 1994; 7(1): 5-7[DOI][PubMed]
  • 16. Shimo N, Yasuda T, Kitamura T, Matsushita K, Osawa S, Yamamoto Y, et al. Aniridia with a heterozygous PAX6 mutation in which the pituitary function was partially impaired. Intern Med. 2014; 53(1): 39-42[PubMed]
  • 17. Zhang X, Tong Y, Xu W, Dong B, Yang H, Xu L, et al. Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients. Eye (Lond). 2011; 25(12): 1581-9[DOI][PubMed]
  • 18. Bandah D, Rosenmann A, Blumenfeld A, Averbukh E, Banin E, Sharon D. A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia. Mol Vis. 2008; 14: 142-5[PubMed]
  • 19. Yan N, Zhao Y, Wang Y, Xie A, Huang H, Yu W, et al. Molecular genetics of familial nystagmus complicated with cataract and iris anomalies. Mol Vis. 2011; 17: 2612-7[PubMed]
  • 20. Lin Y, Liu X, Liang X, Li B, Jiang S, Ye S, et al. PAX6 analysis of one family and one sporadic patient from southern China with classic aniridia. Mol Vis. 2011; 17: 3116-20[PubMed]
  • 21. Chen JH, Lin W, Sun G, Huang C, Huang Y, Chen H, et al. A novel PAX6 deletion in a Chinese family with congenital aniridia. Mol Vis. 2012; 18: 989-95[PubMed]
  • 22. Ivanov I, Shuper A, Shohat M, Snir M, Weitz R. Aniridia: recent achievements in paediatric practice. Eur J Pediatr. 1995; 154(10): 795-800[PubMed]
  • 23. Peter NM, Leyland M, Mudhar HS, Lowndes J, Owen KR, Stewart H. PAX6 mutation in association with ptosis, cataract, iris hypoplasia, corneal opacification and diabetes: a new variant of familial aniridia? Clin Experiment Ophthalmol. 2013; 41(9): 835-41[DOI][PubMed]
  • 24. Valenzuela A, Cline RA. Ocular and nonocular findings in patients with aniridia. Can J Ophthalmol. 2004; 39(6): 632-8[PubMed]
  • 25. Chen P, Zang X, Sun D, Wang Y, Wang Y, Zhao X, et al. Mutation analysis of paired box 6 gene in inherited aniridia in northern China. Mol Vis. 2013; 19: 1169-77[PubMed]
  • 26. Jin C, Wang Q, Li J, Zhu Y, Shentu X, Yao K. A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family. Mol Vis. 2012; 18: 465-70[PubMed]
  • 27. Lee PC, Lam HH, Ghani SA, Subrayan V, Chua KH. Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia. Genet Mol Res. 2014; 13(2): 3553-9[DOI][PubMed]
  • 28. Zhuang J, Chen X, Tan Z, Zhu Y, Zhao K, Yang J. A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities. Sci Rep. 2014; 4: 4836[DOI][PubMed]
  • 29. Goswami S, Gupta V, Srivastava A, Sihota R, Malik MA, Kaur J. A novel duplication in the PAX6 gene in a North Indian family with aniridia. Int Ophthalmol. 2014; 34(6): 1183-8[DOI][PubMed]
  • 30. Godavova L, Godava M, Sabova J, Kolarova G, Mohlerova S. [Clinical Findings in Family with Aniridia due the PAX6 Mutation]. Cesk Slov Oftalmol. 2014; 70(4): 138-44[PubMed]
  • 31. Davis A, Cowell JK. Mutations in the PAX6 gene in patients with hereditary aniridia. Hum Mol Genet. 1993; 2(12): 2093-7[PubMed]
  • 32. van Os E, Niemarkt HJ, Verreussel MJ, Cruysberg JR, Bok LA, Spruijt L. [Two neonates with congenital aniridia: the necessity of genetic investigation]. Ned Tijdschr Geneeskd. 2008; 152(10): 569-73[PubMed]
  • 33. Sonoda S, Isashiki Y, Tabata Y, Kimura K, Kakiuchi T, Ohba N. A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia. Graefes Arch Clin Exp Ophthalmol. 2000; 238(7): 552-8[PubMed]
  • 34. Villarroel CE, Villanueva-Mendoza C, Orozco L, Alcantara-Ortigoza MA, Jimenez DF, Ordaz JC, et al. Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations. Mol Vis. 2008; 14: 1650-8[PubMed]
  • 35. Yasuda T, Kajimoto Y, Fujitani Y, Watada H, Yamamoto S, Watarai T, et al. PAX6 mutation as a genetic factor common to aniridia and glucose intolerance. Diabetes. 2002; 51(1): 224-30[PubMed]
  • 36. Nishi M, Sasahara M, Shono T, Saika S, Yamamoto Y, Ohkawa K, et al. A case of novel de novo paired box gene 6 (PAX6) mutation with early-onset diabetes mellitus and aniridia. Diabet Med. 2005; 22(5): 641-4[DOI][PubMed]
  • 37. Bremond-Gignac D, Bitoun P, Reis LM, Copin H, Murray JC, Semina EV. Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia. Mol Vis. 2010; 16: 1705-11[PubMed]
  • 38. Cheng F, Song W, Kang Y, Yu S, Yuan H. A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family. Mol Vis. 2011; 17: 448-55[PubMed]
  • 39. Neethirajan G, Nallathambi J, Krishnadas SR, Vijayalakshmi P, Shashikanth S, Collinson JM, et al. Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia. BMC Ophthalmol. 2006; 6: 28[DOI][PubMed]
  • 40. Yuan H, Kang Y, Shao Z, Li Y, Yang G, Xu N. Two novel PAX6 mutations identified in northeastern Chinese patients with aniridia. Mol Vis. 2007; 13: 1555-61[PubMed]
  • 41. Ramirez-Miranda A, Zenteno JC. PAX6 gene intragenic deletions in Mexican patients with congenital aniridia. Mol Vis. 2006; 12: 318-23[PubMed]
  • 42. Wang P, Guo X, Jia X, Li S, Xiao X, Zhang Q. Novel mutations of the PAX6 gene identified in Chinese patients with aniridia. Mol Vis. 2006; 12: 644-8[PubMed]
  • 43. Perveen R, Lloyd IC, Clayton-Smith J, Churchill A, van Heyningen V, Hanson I, et al. Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. Invest Ophthalmol Vis Sci. 2000; 41(9): 2456-60[PubMed]
  • 44. Mirkinson AE, Mirkinson NK. A familial syndrome of aniridia and absence of the patella. Birth Defects Orig Artic Ser. 1975; 11(5): 129-31[PubMed]
  • 45. Coman DJ, White SM, Amor DJ. Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome? Am J Med Genet A. 2007; 143A(18): 2085-8[DOI][PubMed]
  • 46. Courteney-Harris RG, Mills RP. Aniridia and deafness: an inherited disorder. J Laryngol Otol. 1990; 104(5): 419-20[PubMed]
  • 47. Bremond-Gignac D, Crolla JA, Copin H, Guichet A, Bonneau D, Taine L, et al. Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. Eur J Hum Genet. 2005; 13(4): 409-13[DOI][PubMed]
  • 48. Verloes A, Temple IK, Bonnet S, Bottani A. Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes. Am J Med Genet. 1997; 69(4): 370-9[PubMed]
  • 49. Tremblay F, Gupta SK, De Becker I, Guernsey DL, Neumann PE. Effects of PAX6 mutations on retinal function: an electroretinographic study. Am J Ophthalmol. 1998; 126(2): 211-8[PubMed]
  • 50. Dowler JG, Lyons CJ, Cooling RJ. Retinal detachment and giant retinal tears in aniridia. Eye (Lond). 1995; 9 ( Pt 3): 268-70[DOI][PubMed]
  • 51. Gregory-Evans K, Cheong-Leen R, George SM, Xie J, Moosajee M, Colapinto P, et al. Non-invasive anterior segment and posterior segment optical coherence tomography and phenotypic characterization of aniridia. Can J Ophthalmol. 2011; 46(4): 337-44[DOI][PubMed]
Creative Commons License Except where otherwise noted, this work is licensed under Creative Commons Attribution Non Commercial 4.0 International License .

Search Relations:

Author(s):

Article(s):

Create Citiation Alert
via Google Reader

Readers' Comments