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Ophthalmic Genetics Volume 31, 2010 - Issue 4
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Original Article

Congenital cataracts in two siblings with Wolfram Syndrome

Rebecca B. MetsDepartment of Ophthalmology, Northwestern University, Chicago, Illinois, USA
,
Sarah B. EmeryDivision of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, Ann Arbor, Michigan, USA
,
Marci M. LesperanceDivision of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, Ann Arbor, Michigan, USA
&
Marilyn B. MetsDepartment of Ophthalmology, Northwestern University, Chicago, Illinois, USACorrespondence[email protected]
Pages 227-229 | Received 27 Apr 2010, Accepted 11 Aug 2010, Published online: 11 Nov 2010

REFERENCES

  • Amr, S, Heisey C, Zhang M, et al. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Am J Hum Genet. 2007;81:673–683.
  • Strom TM, Hortnagel K, Hofmann S, et al. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. Hum Mol Genet. 1998;7:2021– 2028.
  • Al-Till M, Jarrah NS, Ajlouni KM. Ophthalmologic findings in 15 patients with Wolfram syndrome. Eur J Ophthalmol. 2002;12:84–88.
  • Hansen, L, Eiberg H, Barrett T, et al. Mutation analysis of the WFSq gene in seven Danish Wolfram syndrome families; four new mutations identified. Eur J Hum Genet. 2005;13:1275–1284.
  • Castro FJ, Barrio J, Perena MF, et al. Uncommon ophthalmologic findings associated with Wolfram syndrome. Acta Ophthalmol Scand. 2000;78:118–119.
  • Bekir NA, Gungor K, Guran S. A DIDMOAD syndrome family with juvenile glaucoma and myopia findings. Acta Ophthalmol Scand. 2000;78:480–482.
  • Sumboonnanonda A, Vongjirad A, Suntornpoch V, et al. Renal Failure in two patients with Wolfram syndrome. J Pediatr Endocrinol Metab. 1997;10:645–651.
  • Young T, Ives E, Lynch E, et al. Non-Syndromic progressive hearing loss DFNA38 is caused by a heterozygous missense mutation in the Wolfram syndrome gene WFS1. Hum Mol Genet. 2001;10:2509–2514.

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