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Research Article

Cytochrome P4501B1 mutations cause only part of primary congenital glaucoma in Ecuador

Pages 3-9 | Published online: 08 Jul 2009

References

  • Allingham, RR. Glaucoma. In: Albert DM, Jakobiec FA editors. Principles and practice of ophthalmology: clinical practice. Philadelphia, PA: WB Saunders, 1994; 1291.
  • Sarfarazi M, Akarsu AN, Hossein A., Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS. Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 4.21 and evidence for genetic heterogeneity. Genomics. 1995;30: 171–177.
  • Stoilov I, Akarsu NA, Sarfarazi M. Identification of three different truncating mutations in cytochrome P4.50IBI (CYPTBI) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet. 1997;6: 641–647.
  • Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, Astle WF, Otterud B, Leppert M, Lupski JR. Mutations in CYPTBI, the gene for cytochrome P45oIBI, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am J Hum Genet. 1998;62:325–333.
  • Akarsu AN, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS, Sarfarazi M. A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. Hum Mol Genet. 1996;5: 1199–1203.
  • Bejjani BA, Stockton DW, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, Astle WF, Lupski JR. Multiple CYPEBI mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum Mol Genet. 2000;9: 367–374.
  • Stoilov I, Akarsu AN, Alozie I, Child A, Barsoum-Homsy M, Turacli ME, Or M, Lewis RA, Ozdemir N, Brice G, Aktan SG, Chevrette L, Coca-Prados M, Sarfarazi M. Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p2I results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P450IBI. Am J Hum Genet. 1998;62: 573–584.
  • Kakiuchi-Matsumoto T, Isashiki Y, Ohba N, Kimura K, Sonoda S, Unoki K. Cytochrome P450 1BI gene mutations in Japanese patients with primary congenital glaucoma. Am J Ophthalmol. 2001; 13 1:345–350.
  • Kakiuchi-Matsumoto T, Isashiki Y, Nakao K, Sonoda S, Kimura K, Ohba N. A novel truncating mutation of cytochrome P450IBi (CYPIBI) gene in primary infantile glaucoma. Am J Ophthalmol. 1000; 128:370–372.
  • PlÁšSilovÁ M, Stoilov I, Sarfarazi M, Kadasi L, Ferakova E, Feralk V. Identification of a single ancestral CYPIBI mutation in Slovak gypsies (Roms) affected with primary congenital glaucoma. J Med Genet. 1000;36:200–294.
  • Martin SN, Sutherland J, Levin AV, Klose R, Priston M, Heon E. Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness. J Med Genet. 2000;37: 422–427.
  • Sambrook J, Fritch EF, Maniatis T. Molecular cloning, a laboratory manual. 2nd ed. New York: Cold Spring Harbor Laboratory Press, 1989; 9.31–9.57.

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