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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
MeSH Review

Anophthalmos

 
 
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Disease relevance of Anophthalmos

 

Psychiatry related information on Anophthalmos

  • It is proposed that these cases belong to a clinical entity that is distinguishable from the remaining 12 patients because of bilateral anophthalmia, cortical dysgenesis, and its resulting severe mental retardation and intractable epilepsy [6].
 

High impact information on Anophthalmos

 

Chemical compound and disease context of Anophthalmos

 

Biological context of Anophthalmos

  • Approximately 10% of humans with anophthalmia (absent eye) or severe microphthalmia (small eye) show haploid insufficiency due to mutations in SOX2, a SOXB1-HMG box transcription factor [17].
  • Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies [18].
  • Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother [19].
  • We report on a four-generation family with X-linked anophthalmia in four affected males and show that this family has LOD scores consistent with linkage to Xq27, the third family reported to be linked to the ANOP1 locus [20].
 

Anatomical context of Anophthalmos

 

Gene context of Anophthalmos

  • Here we describe the phenotype and physical mapping of a highly penetrant X-linked male-lethal murine mutation, exma (exencephaly, microphthalmia/anophthalmia), that specifically disrupts development of the rostral neural tube and eye [23].
  • CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds [24].
  • A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene [20].
  • Putative genes of anophthalmia and microphthalmia reported to date include PAX6 (Glaser T et al 1994) and CHX10 (Ferda Percin E et al 2000) [25].
  • Prior studies have shown linkage of both isolated (or nonsyndromic) anophthalmos (ANOP1, [MIM 301590]) and Lenz syndrome [MIM 309800] to Xq27-q28 [26].
 

Analytical, diagnostic and therapeutic context of Anophthalmos

References

  1. Absence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma. Aijaz, S., Clark, B.J., Williamson, K., van Heyningen, V., Morrison, D., Fitzpatrick, D., Collin, R., Ragge, N., Christoforou, A., Brown, A., Hanson, I. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
  2. Xenopus aristaless-related homeobox (xARX) gene product functions as both a transcriptional activator and repressor in forebrain development. Seufert, D.W., Prescott, N.L., El-Hodiri, H.M. Dev. Dyn. (2005) [Pubmed]
  3. Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder in a newborn: a midline developmental field defect. Leichtman, L.G., Wood, B., Rohn, R. Am. J. Med. Genet. (1994) [Pubmed]
  4. The embryonic and fetal effects in ICR mice irradiated in the various stages of the preimplantation period. Gu, Y., Kai, M., Kusama, T. Radiat. Res. (1997) [Pubmed]
  5. Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: a new MCA/MR syndrome of unknown cause. Richieri-Costa, A., Guion-Almeida, M.L. Am. J. Med. Genet. (1993) [Pubmed]
  6. New syndrome with the Sakoda complex, bilateral anophthalmia, and cortical dysgenesis. Ehara, H., Kurimasa, A., Ohno, K., Takeshita, K. Pediatric neurology. (1998) [Pubmed]
  7. Mutations in SOX2 cause anophthalmia. Fantes, J., Ragge, N.K., Lynch, S.A., McGill, N.I., Collin, J.R., Howard-Peebles, P.N., Hayward, C., Vivian, A.J., Williamson, K., van Heyningen, V., FitzPatrick, D.R. Nat. Genet. (2003) [Pubmed]
  8. Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. Voronina, V.A., Kozhemyakina, E.A., O'Kernick, C.M., Kahn, N.D., Wenger, S.L., Linberg, J.V., Schneider, A.S., Mathers, P.H. Hum. Mol. Genet. (2004) [Pubmed]
  9. Mice lacking the giant protocadherin mFAT1 exhibit renal slit junction abnormalities and a partially penetrant cyclopia and anophthalmia phenotype. Ciani, L., Patel, A., Allen, N.D., ffrench-Constant, C. Mol. Cell. Biol. (2003) [Pubmed]
  10. Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome. Dixon, J., Brakebusch, C., Fässler, R., Dixon, M.J. Hum. Mol. Genet. (2000) [Pubmed]
  11. Conditional alleles for activation and inactivation of the mouse Rx homeobox gene. Voronina, V.A., Kozlov, S., Mathers, P.H., Lewandoski, M. Genesis (2005) [Pubmed]
  12. Effects of H-2 and vitamin A on eye defects in congenic mice. Tyan, M.L. Proc. Soc. Exp. Biol. Med. (1992) [Pubmed]
  13. Is there an association between maternal carbamazepine use during pregnancy and eye malformations in the child? Kroes, H.Y., Reefhuis, J., Cornel, M.C. Epilepsia (2002) [Pubmed]
  14. Prenatal methamphetamine-induced anophthalmia in rats. Vorhees, C.V., Acuff-Smith, K.D. Neurotoxicology and teratology. (1990) [Pubmed]
  15. Comparative effects of prenatal cocaine, alcohol, and undernutrition on maternal/fetal toxicity and fetal body composition in the Sprague-Dawley rat with observations on strain-dependent differences. Church, M.W., Morbach, C.A., Subramanian, M.G. Neurotoxicology and teratology. (1995) [Pubmed]
  16. Anophthalmia in litters of female rats treated with the food-derived carcinogen, 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine. Ikeda, Y., Takahashi, S., Kimura, J., Cho, Y.M., Imaida, K., Shirai, S., Shirai, T. Toxicologic pathology. (1999) [Pubmed]
  17. SOX2 is a dose-dependent regulator of retinal neural progenitor competence. Taranova, O.V., Magness, S.T., Fagan, B.M., Wu, Y., Surzenko, N., Hutton, S.R., Pevny, L.H. Genes Dev. (2006) [Pubmed]
  18. Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies. Gallardo, M.E., Lopez-Rios, J., Fernaud-Espinosa, I., Granadino, B., Sanz, R., Ramos, C., Ayuso, C., Seller, M.J., Brunner, H.G., Bovolenta, P., Rodríguez de Córdoba, S. Genomics (1999) [Pubmed]
  19. Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. Faivre, L., Williamson, K.A., Faber, V., Laurent, N., Grimaldi, M., Thauvin-Robinet, C., Durand, C., Mugneret, F., Gouyon, J.B., Bron, A., Huet, F., Hayward, C., Heyningen, V., Fitzpatrick, D.R. Am. J. Med. Genet. A (2006) [Pubmed]
  20. A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene. Slavotinek, A., Lee, S.S., Hamilton, S.P. Am. J. Med. Genet. A (2005) [Pubmed]
  21. The eyeless mouse mutation (ey1) removes an alternative start codon from the Rx/rax homeobox gene. Tucker, P., Laemle, L., Munson, A., Kanekar, S., Oliver, E.R., Brown, N., Schlecht, H., Vetter, M., Glaser, T. Genesis (2001) [Pubmed]
  22. Newborn with anophthalmia and features of Fryns syndrome. Pierson, D.M., Subtil, A., Taboada, E., Butler, M.G. Pediatr. Dev. Pathol. (2002) [Pubmed]
  23. exma: an X-linked insertional mutation that disrupts forebrain and eye development. Cunningham, D., Xiao, Q., Chatterjee, A., Sulik, K., Juriloff, D., Elder, F., Harrison, W., Schuster, G., Overbeek, P.A., Herman, G.E. Mamm. Genome (2002) [Pubmed]
  24. CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. Bar-Yosef, U., Abuelaish, I., Harel, T., Hendler, N., Ofir, R., Birk, O.S. Hum. Genet. (2004) [Pubmed]
  25. Congenital bilateral severe microphthalmia with mental retardation and cerebral palsy: chromosome aberration, 46, XY, t (2;6)(q31;q24). Hirayama, T., Kobayashi, T., Fujino, O. Journal of Nippon Medical School = Nihon Ika Daigaku zasshi. (2005) [Pubmed]
  26. Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder? Ng, D., Hadley, D.W., Tifft, C.J., Biesecker, L.G. Am. J. Med. Genet. (2002) [Pubmed]
  27. Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2. Guichet, A., Triau, S., Lépinard, C., Esculapavit, C., Biquard, F., Descamps, P., Encha-Razavi, F., Bonneau, D. Prenat. Diagn. (2004) [Pubmed]
  28. Expansion of the socket and orbit for congenital clinical anophthalmia. Gundlach, K.K., Guthoff, R.F., Hingst, V.H., Schittkowski, M.P., Bier, U.C. Plast. Reconstr. Surg. (2005) [Pubmed]
 
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