The genetics of anophthalmia and microphthalmia

Current Opinion in Ophthalmology

Volumn 22, Issue 5, 2011, Pages 309-313

  Bardakjian, Tanya M ^a   Schneider, Adele ^a  

^a ALBERT EINSTEIN MEDICAL CENTER   (United States)

Author keywords

anophthalmia; coloboma; microphthalmia

Indexed keywords

BONE MORPHOGENETIC PROTEIN; FORKHEAD TRANSCRIPTION FACTOR; HOMEODOMAIN PROTEIN; PROTEIN BCL 6; RETINOIC ACID; TRANSCRIPTION FACTOR OTX2; TRANSCRIPTION FACTOR PAX6; TRANSCRIPTION FACTOR SOX2; TRANSFORMING GROWTH FACTOR BETA;

ANOPHTHALMIA; CHROMOSOME ABERRATION; EYE DEVELOPMENT; GENE; GENE MUTATION; GENETIC COUNSELING; GENETIC DISORDER; GENETIC SCREENING; HUMAN; MICROPHTHALMIA; PRIORITY JOURNAL; REVIEW; SYMPTOM;

ANOPHTHALMOS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HOMEODOMAIN PROTEINS; HUMANS; MICROPHTHALMOS; MUTATION; OTX TRANSCRIPTION FACTORS; PAIRED BOX TRANSCRIPTION FACTORS; PREGNANCY; REPRESSOR PROTEINS; SOXB1 TRANSCRIPTION FACTORS; TRANSCRIPTION FACTORS; TRANSFORMING GROWTH FACTOR BETA;

EID: 80051797691     PISSN: 10408738     EISSN: 15317021     Source Type: Journal    
DOI: 10.1097/ICU.0b013e328349b004     Document Type: Review

References (48)

1. Morrison D, FitzPatrick D, Hanson I, et al. National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: Investigation of genetic aetiology. J Med Genet 2002;39:16-22. (Pubitemid 34093600)
2. Bardakjian TM, Kwok S, Slavotinek AM, Schneider AS. Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2. Am J Med Genet A 2010;152 A: 3120-3123.
3. Desmaison A, Vigouroux A, Rieubland C, et al. Mutations in the LHX2 gene are not a frequent cause of micro/anophthalmia. Mol Vis 2010;16:2847-2849.
4. Fuhrmann S. Eye morphogenesis and patterning of the optic vesicle. Curr Top Dev Biol 2010;93:61-84.
5. Bardakjian T, Weiss A, Schneider AS. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Gene Reviews (Internet). Seattle, Washington: University of Washington, Seattle; 1993-2004 [Updated 15 February 2007].
6. Hoover-Fong JE, Cai J, Cargile CB, et al. Facial dysgenesis: a novel facial syndrome with chromosome 7 deletion p15.1-21.1. Am J Med Genet 2003;117:47-56. (Pubitemid 37059320)
7. Bessant DA, Khaliq S, Hameed A, et al. A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32. Am J Hum Genet 1998;62:1113-1116. (Pubitemid 28199013)
8. Lemyre E, Lemieux N, Decarie JC, Lambert M. Del. (14) (q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia. Am J Med Genet 1998;77:162-165. (Pubitemid 28211169)
9. Bardakjian TM, Schneider AS, Ng D, et al. Association of ade novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. BMC Med Genet 2009;10:137.
10. Raca G, Jackson CA, Kucinskas L, et al. Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma. Genet Med 2011;13:437-442.
11. West B, Bove KE, Slavotinek AM. Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration. Am J Med Genet 2009 Mar. 149 A; 539-542.
12. McGregor L, Makela V, Darling SM, et al. Fraser syndrome mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding putative extracellular matrix protein. Nature genetics 2003;34:203-208. (Pubitemid 36666933)
13. Vissers L E L M, van Ravenswaajj C M A, Admiraal R, et al. Mutations in a new member of the chromosomain gene family cause CHARGE syndrome. Nat Genet 2004;36:955-957. (Pubitemid 39167490)
14. Ng D, Thakker N, Corcoran CM, et al. Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet 2004;36:411-416. (Pubitemid 38437266)
15. Gonzalez-Rodriguez J, Pelcastre E, Tovilla-Canales JL, et al. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. Br J Ophthalmol 2010;94:1100-1104. This is a good study, which screened many samples for mutations in the well described genes involved with ocular development.
16. Glaser T, Jepeal L, Edwards JG, et al. PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. Nat Genet 1994;7:463-471. (Pubitemid 24308331)
17. Mathers PH, Grinberg A, Mahon KA, Jamrich M. The Rx homeobox gene is essential for vertebrate eye development. Nature 1997;387:603-607. (Pubitemid 27248765)
18. Voronina VA, Kozhemyakina EA, O'Kernick CM, et al. Mutations in the RAX homeobox gene in a patient with anophthalmia and sclerocornea. Human Mol Genet 2004;13:315-322. (Pubitemid 38196171)
19. Ferda PE, Ploder LA, Yu JJ, et al. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet 2000;25:397-401. (Pubitemid 32983429)
20. Percin EF, Ploder LA, Yu JJ, et al. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nature Genet 2000;25:397-401. (Pubitemid 32983429)
21. Male A, Davies A, Bergbaum A, et al. Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26. 33-q28 and description of the syndrome associated with visible chromosome deletions of this region. Eur J Hum Genet 2002;10:807-812. (Pubitemid 36054561)
22. Fantes J, Ragge NK, Lynch SA, et al. Mutations in SOX2 cause anophthalmia. Nat Genet 2003;33:462-463.
23. Ragge NK, Lorenz B, Schneider A, et al. SOX2 Anophthalmia syndrome. Am J Med Genet 2005;135 A: 1-7. (Pubitemid 40627655)
24. Hagstrom SA, Pauer G J T, Reid J, et al. Traboulsi. SOX2 mutation causes anophthalmia, hearing loss and brain anomalies. Am J Med Genet 2005;138 A: 95-98. (Pubitemid 41384256)
25. Zenteno JC, Gascon-Guzman G, Tovilla-Canales JL. Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the sox2 gene. Clin Genet 2005;68:564-566. (Pubitemid 41748860)
26. Boiani M, Scholer HR. Regulatory networks in embryo-derived pluripotent stem cells. Nat Rev Mol Cell Biol 2005;6:872-884. (Pubitemid 41568736)
27. Avilion AA, Nicolis SK, Pevny LH, et al. Multipotent cell lineages in early mouse development depend on sox2 function. Genes Dev 2003;17:126-140. (Pubitemid 36062514)
28. Van Raay TJ, Moore KN, Iordanova I, et al. Frizzled 5 signaling governs the neural potential of progenitors in the developing xenopus retina. Neuron 2005;46:23-36. (Pubitemid 40488309)
29. Kamachi Y, Uchikawa M, Tanouchi A, et al. Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development. Genes Dev 2001;15:1272-1286. (Pubitemid 32472755)
30. Scaffidi P, Bianchi ME. Spatially precise DNA binding is an essential activity of the sox2 transcription factor. J Biol Chem 2001;276:47296-47302.
31. Schneider A, Bardakjian T, Reis LM, et al. Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. Am J Med Genet A 2009;149:2706-2715.
32. Danno H, Michiue T, Hitachi K, et al. Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression. Proc Natl Acad Sci USA 2008;105:5408-5413. (Pubitemid 351753876)
33. Kamachi Y, Uchikawa M, Tanouchi A, et al. Pax6 and SOX2 form a co-DNA-binding partner complex that regulates initiation of lens development. Genes Dev 2001;15:1272-1286. (Pubitemid 32472755)
34. Matsushima D, Heavner W, Pevny LH. Combinatorial regulation of optic cup progenitor cell fate by SOX2 and PAX6. Development 2011;138:443-454. Both this study and [33] underscore the importance of some type of cascade interaction between several genes, which are essential in normal eye development. Many researchers feel that most of these genes interplay with each other to ultimately create a normal ocular structure.
35. Faivre L, Williamson KA, Faber V, et al. Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. Am J Med Genet A 2006;140:636-639. (Pubitemid 43376303)
36. Schneider A, Bardakjian TM, Zhou J, et al. Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. Am J Med Genet A 2008;146:2794-2798.
37. Bakrania P, Robinson DO, Bunyan DJ, et al. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol 2007;91:1471-1476. (Pubitemid 350044049)
38. Schilter KF, Schneider A, Bardakjian T, et al. OTX2 microphthalmia syndrome and delineation of a phenotype. Clin Genet 2011;79:158-168. This article describes the clinical phenotype of OTX2 mutations and lends a wealth of knowledge for clinicians.
39. den Hollander AI, Biyanwila J, Kovach P, et al. Genetic defects of GDF6 in the zebrafish out of sight mutant in human eye developmental anomalies. BMC Genet 2010;11:102. This article highlights the importance of a newly identified gene in ocular development.
40. Reis LM, Tyler RC, Schilter KF, et al. BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Hum Genet 2011 [Epub ahead of print]. This article identifies BMP4 as a causative gene in anophthalmia and microphthalmia and provides some clinical information.
41. Reis LM, Tyler RC, Schneider A, et al. FOXE3 plays a significant role in autosomal recessive microphthalmia. Am J Med Genet A 2010;152:582-590. This article is the first to describe FOXE3 mutations in cases of microphthalmia or anophthalmia.
42. Porter FD, Drago J, Xu Y, et al. Lhx2, aLIM homeobox gene, is required for eye, forebrain, and definitive erythrocyte development. Development 1997;124:2935-2944. (Pubitemid 27370909)
43. Tetreault Tetreault N, Champagne MP, Bernier G. The LIM homeoboxtranscription factor Lhx2 is required to specify the retina field and synergistically cooperates with Pax6 for Six6 trans-activation. Dev Biol 2009;327:541-550.
44. Yun S, Saijoh Y, Hirokawa K E, et al. Lhx2 links the intrinsic and extrinsic factors that control optic cup formation. Development 2009;136:3895-3906.
45. Okada Okada I, Hamanoue H, Terada K, et al. SMOC1 is essential for ocular and limb development in humans and mice. Am J Hum Genet 2011;88:30-41. This article identify the novel gene, SMOC1. Mutations in this gene cause Waardenburg-anophthalmia syndrome.
46. ••] identified the novel gene, SMOC1. Mutations in this gene cause Waardenburg-anophthalmia syndrome.
47. Chao R, Nevin L, Agarwal P, et al. A male with unilateral microphthalmia reveals a role for TMX3 in eye development. PLoS One 2010;11:e10565. This article reports on a novel gene, which may potentially cause anophthalmia/microphthalmia.
48. Bertolacini C, Ribeiro-Bicudo L, Petrin A, et al. Clinical findings in patients with GLI2 mutations - phenotypic variability. Clin Genet 2010 [Epub ahead of print].