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Letter to the Journal

Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation

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Pages 257-259 | Received 01 Jan 2012, Accepted 21 Feb 2012, Published online: 09 Apr 2012

REFERENCES

  • Abu A, Frydman M, Marek D, et al. Deleterious mutations in the zinc-finger 469 gene cause brittle cornea syndrome. Am J Hum Genet 2008;82(5):1217–1222.
  • Christensen AE, Knappskog PM, Midtbo M, et al. Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene. Invest Ophthalmol Vis Sci 2010;51(1):47–52.
  • Khan AO, Aldahmesh MA, Mohamed JN, et al. Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X). Arch Ophthalmol 2010;128(10):1376–1379.
  • Khan AO. Conditions that can be mistaken as early childhood glaucoma. Ophthalmic Genet 2011;32(3):129–137.
  • Beighton P, Solomon L, Soskolne CL. Articular mobility in an African population. Ann Rheum Dis 1973;32(5):413–418.
  • Burkitt Wright EM, Spencer HL, Daly SB, et al. Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. Am J Hum Genet 2011;88(6):767–777.
  • Aldahmesh MA, Mohamed JY, Alkuraya FS. A novel mutation in PRDM5 in brittle cornea syndrome. Clin Genet 2012;81(2):198–199.

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