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Case Reports

Expansion of the Clinical Ocular Spectrum of Wolfram Syndrome in a Family Carrying a Novel WFS1 Gene Deletion

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Pages 243-248 | Received 17 Aug 2012, Accepted 01 Dec 2012, Published online: 01 Feb 2013

References

  • Barret TG, Bundey SE, Maclead AF. Neurodegeneration and diabetes. UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 1995;346:1458–1463
  • Wolfram DJ, Wagener HP. Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clin Proc 1938;13:715–718
  • Khanim F, Kirk J, Latif F, Barrett TG. WFS1/Wolframin mutations, Wolfram syndrome, and associated diseases. Hum Mutat 2001;17:357–367
  • Hofmann S, Philbrook C, Gerbitz KD, Bauer MF. Wolfram syndrome: structural and functional analysis of mutant and wild-type wolframin, the WFS1 gene product. Hum Mol Genet 2003;12:2003–2012
  • Rigoli L, Lombardo F, Di Bella C. Wolfram syndrome and WFS1 gene. Clin Genet 2011;79:103–117
  • Hansen L, Eiberg H, Barrett T, et al. Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified. Eur J Hum Genet 2005;13:1275–1284
  • Dhalla MS, Desai UR, Zuckerbrod DS. Pigmentary maculopathy in a patient with Wolfram syndrome. Can J Ophthalmol 2006;41:38–40
  • Mets RB, Emery SB, Lesperance MM, Mets MB. Congenital cataracts in two siblings with Wolfram syndrome. Ophthalmic Genet 2010;31:227–229
  • Alimadadi A, Ebrahim-Habibi A, Abassi F, et al. Novel mutations of wolframin: a report with a look at the protein structure. Clin Genet 2011;79:96–99
  • Takeda K, Inoue H, Tanizawa Y, et al. WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum Mol Genet 2001;10:477–484
  • Takei D, Ishihara H, Yamaguchi S, et al. WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum. FEBS Lett 2006;580:5635–5640
  • Bekir NA, Güngör K, Güran S. A DIDMOAD syndrome family with juvenile glaucoma and myopia findings. Acta Ophthalmol Scand 2000;78:480–482
  • Chan RT, Collin HB. Microspherophakia. Clin Exp Optom 2002;85:294–299
  • Taylor D. Paediatric ophthalmology. Boston, MA: Butterworth-Heinneman; 1989
  • Nagata M, Takagi S, Yamasaki A, et al. Histopathological study of microspherophakia in the Weill-Marchesani syndrome. Jpn J Ophthalmol 1995;39:89–95
  • Kumar A, Duvvari MR, Prabhakaran VC, et al. A homozygous mutation in LTBP2 causes isolated microspherophakia. Hum Genet 2010;128:365–371
  • Désir J, Sznajer Y, Depasse F, et al. LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. Eur J Hum Genet 2010;18:761–767
  • Dureau P. Glaucoma, hereditary. Orphanet Encyclopedia March 2004:1–3
  • Khan AO, Aldahmesh MA, Alkuraya FS. Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma – a distinct phenotype caused by recessive LTBP2 mutations. Mol Vis 2011;17:2570–2579
  • Johnson GJ, Bosanquet RC. Spherophakia in a Newfoundland family: 8 years’ experience. Can J Ophthalmol 1983;18:159–164
  • Johnson VP, Grayson M, Christian JC. Dominant microspherophakia. Arch Ophthalmol 1971;85:534–537
  • Probert LA. Spherophakia with brachydactyly: comparison with Marfan’s syndrome. Am J Ophthalmol 1953;36:1571–1574

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