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Disease relevance of Coloboma


Psychiatry related information on Coloboma

  • In contrast, the psychostimulant methylphenidate increased locomotor activity in both coloboma and control mice [6].
  • A regularly recurring pattern of associated features involving mental retardation, postnatal growth deficiency, hypogenitalism (males), small ears, cardiac defects, micrognathia, postnatal microcephaly, and ocular coloboma was identified [7].
  • JS is clinically heterogeneous with some patients presenting with breathing abnormalities in the neonatal period, oculomotor apraxia, retinal dystrophy, retinal coloboma, ptosis, hexadactyly, and nephronophtisis or cystic dysplastic kidneys [8].

High impact information on Coloboma

  • Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux [9].
  • Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma [10].
  • We mapped the Jag1 gene to mouse chromosome 2, in the vicinity of the Coloboma ( Cm ) deletion [11].
  • Vax2 homozygous mutant mice display incomplete closure of the optic fissure that leads to eye coloboma [12].
  • Furthermore, Pax2 mutants show extension of the pigmented retina into the optic stalks and failure of the optic fissure to close resulting in coloboma [13].

Chemical compound and disease context of Coloboma


Biological context of Coloboma


Anatomical context of Coloboma


Gene context of Coloboma

  • A previous study found an association between ADHD and two polymorphisms in the 3' untranslated region (UTR) of SNAP-25, a gene encoding a synaptic vesicle docking protein known to play a role in the hyperactivity observed in the Coloboma mouse strain [28].
  • PURPOSE: To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6 [29].
  • The localization of the genetic abnormality in coloboma mice using the Snap gene marker will provide a powerful tool for studying the biologic basis of locomotor hyperactivity [30].
  • Deletion map of the coloboma (Cm) locus on mouse chromosome 2 [31].
  • It has been previously shown that mutations in a particular nucleotide in CHX10 are associated with an autosomal recessive syndrome of microphthalmia/anophthalmia with iris colobomas and cataracts in two families [32].

Analytical, diagnostic and therapeutic context of Coloboma


  1. Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation. Lalani, S.R., Safiullah, A.M., Fernbach, S.D., Harutyunyan, K.G., Thaller, C., Peterson, L.E., McPherson, J.D., Gibbs, R.A., White, L.D., Hefner, M., Davenport, S.L., Graham, J.M., Bacino, C.A., Glass, N.L., Towbin, J.A., Craigen, W.J., Neish, S.R., Lin, A.E., Belmont, J.W. Am. J. Hum. Genet. (2006) [Pubmed]
  2. The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies. Cunliffe, H.E., McNoe, L.A., Ward, T.A., Devriendt, K., Brunner, H.G., Eccles, M.R. J. Med. Genet. (1998) [Pubmed]
  3. Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement. Verloes, A., Van Maldergem, L., de Marneffe, P., Dufier, J.L., Maroteaux, P. J. Med. Genet. (1990) [Pubmed]
  4. Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. Hurst, J.A., Markiewicz, M., Kumar, D., Brett, E.M. J. Med. Genet. (1988) [Pubmed]
  5. Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation. Nagai, K., Nagao, M., Nagao, M., Yanai, S., Minagawa, K., Takahashi, Y., Takekoshi, Y., Ishizaka, A., Matsuzono, Y., Kobayashi, O., Itagaki, T. J. Med. Genet. (1998) [Pubmed]
  6. Mouse model of hyperkinesis implicates SNAP-25 in behavioral regulation. Hess, E.J., Collins, K.A., Wilson, M.C. J. Neurosci. (1996) [Pubmed]
  7. Choanal atresia and associated multiple anomalies. Hall, B.D. J. Pediatr. (1979) [Pubmed]
  8. Homozygosity mapping of a third Joubert syndrome locus to 6q23. Lagier-Tourenne, C., Boltshauser, E., Breivik, N., Gribaa, M., Bétard, C., Barbot, C., Koenig, M. J. Med. Genet. (2004) [Pubmed]
  9. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Sanyanusin, P., Schimmenti, L.A., McNoe, L.A., Ward, T.A., Pierpont, M.E., Sullivan, M.J., Dobyns, W.B., Eccles, M.R. Nat. Genet. (1995) [Pubmed]
  10. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Jamieson, R.V., Perveen, R., Kerr, B., Carette, M., Yardley, J., Heon, E., Wirth, M.G., van Heyningen, V., Donnai, D., Munier, F., Black, G.C. Hum. Mol. Genet. (2002) [Pubmed]
  11. Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1. Xue, Y., Gao, X., Lindsell, C.E., Norton, C.R., Chang, B., Hicks, C., Gendron-Maguire, M., Rand, E.B., Weinmaster, G., Gridley, T. Hum. Mol. Genet. (1999) [Pubmed]
  12. Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma. Barbieri, A.M., Broccoli, V., Bovolenta, P., Alfano, G., Marchitiello, A., Mocchetti, C., Crippa, L., Bulfone, A., Marigo, V., Ballabio, A., Banfi, S. Development (2002) [Pubmed]
  13. Pax2 contributes to inner ear patterning and optic nerve trajectory. Torres, M., Gómez-Pardo, E., Gruss, P. Development (1996) [Pubmed]
  14. Animal models of attention-deficit hyperactivity disorder. Davids, E., Zhang, K., Tarazi, F.I., Baldessarini, R.J. Brain Res. Brain Res. Rev. (2003) [Pubmed]
  15. Coloboma mouse mutant as an animal model of hyperkinesis and attention deficit hyperactivity disorder. Wilson, M.C. Neuroscience and biobehavioral reviews. (2000) [Pubmed]
  16. Coloboma of optic nerve associated with serous maculopathy. A clinicopathologic correlative study. Lin, C.C., Tso, M.O., Vygantas, C.M. Arch. Ophthalmol. (1984) [Pubmed]
  17. Expression of catecholaminergic mRNAs in the hyperactive mouse mutant coloboma. Jones, M.D., Williams, M.E., Hess, E.J. Brain Res. Mol. Brain Res. (2001) [Pubmed]
  18. Absence of linkage of apparently single gene mediated ADHD with the human syntenic region of the mouse mutant Coloboma. Hess, E.J., Rogan, P.K., Domoto, M., Tinker, D.E., Ladda, R.L., Ramer, J.C. Am. J. Med. Genet. (1995) [Pubmed]
  19. Coloboma hyperactive mutant exhibits delayed neurobehavioral developmental milestones. Heyser, C.J., Wilson, M.C., Gold, L.H. Brain Res. Dev. Brain Res. (1995) [Pubmed]
  20. The CHARGE association in a newborn infant. Akisü, M., Ozkinay, F., Ozyürek, R., Küçüktaş, A., Kültürsay, N. Turk. J. Pediatr. (1998) [Pubmed]
  21. Congenital hypodontia of maxillary lateral incisors in association with coloboma of the iris and hypomaturation type of amelogenesis imperfecta in a large kindred. Atasu, M., Eryilmaz, A., Genc, A., Ozcan, M., Ozbayrak, S. The Journal of clinical pediatric dentistry. (1997) [Pubmed]
  22. Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomalies. Balci, S., Engiz, O., Aktaş, D., Vargel, I., Beksaç, M.S., Mrasek, K., Vermeesch, J., Liehr, T. Am. J. Med. Genet. A (2006) [Pubmed]
  23. Hamartomatous adenoma of the nonpigmented ciliary epithelium arising in iris-ciliary body coloboma. Light and electron microscopic observations. Patrinely, J.R., Font, R.L., Campbell, R.J., Robertson, D.M. Ophthalmology (1983) [Pubmed]
  24. A familial syndrome of central nervous system and ocular malformations. Chemke, J., Czernobilsky, B., Mundel, G., Barishak, Y.R. Clin. Genet. (1975) [Pubmed]
  25. Transgenic rescue of SNAP-25 restores dopamine-modulated synaptic transmission in the coloboma mutant. Steffensen, S.C., Henriksen, S.J., Wilson, M.C. Brain Res. (1999) [Pubmed]
  26. Anophthalmia-microphthalmia-oblique clefting syndrome: confirmation of the Fryns anophthalmia syndrome. Warburg, M., Jensen, H., Prause, J.U., Bolund, S., Skovby, F., Miranda, M.J. Am. J. Med. Genet. (1997) [Pubmed]
  27. Familial CHARGE syndrome: clinical report with autopsy findings. Metlay, L.A., Smythe, P.S., Miller, M.E. Am. J. Med. Genet. (1987) [Pubmed]
  28. Biased paternal transmission of SNAP-25 risk alleles in attention-deficit hyperactivity disorder. Kustanovich, V., Merriman, B., McGough, J., McCracken, J.T., Smalley, S.L., Nelson, S.F. Mol. Psychiatry (2003) [Pubmed]
  29. 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]
  30. Spontaneous locomotor hyperactivity in a mouse mutant with a deletion including the Snap gene on chromosome 2. Hess, E.J., Jinnah, H.A., Kozak, C.A., Wilson, M.C. J. Neurosci. (1992) [Pubmed]
  31. Deletion map of the coloboma (Cm) locus on mouse chromosome 2. Hess, E.J., Collins, K.A., Copeland, N.G., Jenkins, N.A., Wilson, M.C. Genomics (1994) [Pubmed]
  32. 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]
  33. Attention deficit/hyperactivity disorder: characteristics, interventions and models. Paule, M.G., Rowland, A.S., Ferguson, S.A., Chelonis, J.J., Tannock, R., Swanson, J.M., Castellanos, F.X. Neurotoxicology and teratology. (2000) [Pubmed]
  34. Retinal damage after argon laser iridotomy. Karmon, G., Savir, H. Am. J. Ophthalmol. (1986) [Pubmed]
  35. Wolf-Hirschhorn syndrome with posterior intraorbital coloboma cyst: an unusual case. Tutunculer, F., Acunas, B., Hicdonmez, T., Deviren, A., Pelitli, V. Brain Dev. (2004) [Pubmed]
  36. Ophthalmic midline dysgenesis in Kallmann syndrome. Jaffe, M.J., Currie, J., Schwankhaus, J.D., Sherins, R.J. Ophthalmic paediatrics and genetics. (1987) [Pubmed]
  37. Surgical management of retinal detachment with choroidal coloboma. Unlü, N., Kocaoğlan, H., Acar, M.A., Aslan, B.S., Duman, S. European journal of ophthalmology. (2002) [Pubmed]
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