Skip to main content
Log in

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  1. Von Graefe A, Albrecht V. Graefes. Arch Ophthal 1858;4:201.

    Google Scholar 

  2. Wolfram DJ, Wagener HP. Diabetes mellitus and simple optic atrophy among siblings: Report of four cases. Mayo Clin Proc 1938;13:715–718.

    Google Scholar 

  3. Cooper IS, Rynearson EH, Bailey AA, MacCarty CS. Proc Mayo Clin 1950;25:320.

    Google Scholar 

  4. Tunbridge RE, Paley RG. Primary optic atrophy in diabetes mellitus. Diabetes 1956;5:295.

    Google Scholar 

  5. Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 1995;346:1458–1463.

    Google Scholar 

  6. Barrett TG, Bundey S, Fielder A, Good P. Optic atrophy in Wolfram (DIDMOAD) syndrome. Eye 1997;II:882–888.

    Google Scholar 

  7. Swift R, Sadler D, Swift M. Psychiatric findings in Wolfram syndrome heterozygotes. Lancet 1990:336:667–669.

    Google Scholar 

  8. Swift RG, Perkins DO, Chase CL, Sadler DB, Swift M. Psychiatric disorders in 36 families with Wolfram syndrome. Am J Psychiatr 1991;148:775–779.

    Google Scholar 

  9. Karasik A, O'Hara C, Srikanta S, Swift M, Soeldner JS, Kahn CR, Herskowitz RD. Genetically programmed selective islet β-cell loss in diabetic subjects with Wolfram's syndrome. Diabetes Care 1989;12:135–138.

    Google Scholar 

  10. Kinsley BT, Swift M, Dumont RH, Swift RG. Morbidity and mortality in the Wolfram syndrome. Diabetes Care 1995;18:1566–1570.

    Google Scholar 

  11. Fraser F, Gunn T. Diabetes mellitus, diabetes insipidus and optic atrophy: An autosomal recessive syndrome? J Med Genet 1977;14:190–193.

    Google Scholar 

  12. Polymeropoulos MH, Swift RG, Swift M. Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. Nat Genet 1994;8:95–97.

    Google Scholar 

  13. Collier DA, Barrett TG, Curtis D, Macleod A, Arranz MJ, Maassen JA, Bundey S. Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence of heterogeneity. Am J Hum Genet 1996;59:855–863.

    Google Scholar 

  14. Inoue H, Tanizawa Y, Wasson J, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, Mueckler M, Marshall M, Marshall H, Donis-Keller H, Crock P, Rogers D, Mikuni M, Kumashiro H, Higashi K, Sobue G, Oka Y, Permutt MA. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genetics 1998;20:143–148.

    Google Scholar 

  15. El-Shanti H, Lidral AC, Jarrah N, Druhan L, Ajlouni K. Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. Am J Hum Genet 2000;66:1229–1236.

    Google Scholar 

  16. Al-Sheyrab M, Jarrah N, Younis E, Shennak MF, Hadidi A, Awidi A, El-Shanti H, Ajlouni K. Bleeding tendency in Wolfram Syndrome: Anewly identified feature with phenotype genotype correlation. Eur J Paed 2001;160:243–246.

    Google Scholar 

  17. Bundey S, Poulton K, Whitwell H, Curtis E, Brown IAR, Fielder AR. Mitochondrial abnormalities in the DIDMOAD syndrome. J Inherit Metab Dis 1992;15:315–319.

    Google Scholar 

  18. Bu X, Rotter JI. Wolfram syndrome: A mitochondrial mediated disorder? Lancet 1993;342:598–600.

    Google Scholar 

  19. Barrientos A, Casademont J, Saiz A, Cardallach F, Volpini V, Solans A, Tolosa E, Urbano-Marquez A, Estivill X, Nunes V. Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion. Am J Hum Genet 1996;58:963–970.

    Google Scholar 

  20. van den Ouweland JM, Lemkes HH, Ruitenbeek W, Sandkuijl LA, de Vijlder MF, Struyvenberg PA, van de Kamp JJ, Maassen JA. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1992;1:368–371.

    Google Scholar 

  21. Strom TM, Hortnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, Gerbitz KD, Meitinger T. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutation in a novel gene (wolframin) coding a predicted transmembrane protein. Hum Molec Genet 1998;7:2021–2028.

    Google Scholar 

  22. Hardy C, Khanim F, Torres R, Scott-Brown M, Seller A, Poulton J, Collier D, Kirk J, Polymeropoulos M, Latif F, Barrett T. Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demostrating a wide spectrum of mutations in WFS1. Am J Hum Genet 1999;65:1279–1290.

    Google Scholar 

  23. Barrientos A, Volpini V, Casademont J, Genis D, Manzanares JM, Ferrer I, Corral J, Cardallach F, Urbano-Marquez A, Estivill X, Nunes V. Anuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. J Clin Invest 1996b;97:1570–1576.

    Google Scholar 

  24. Barrett TG, Scott-Brown M, Seller A, Bednarz A, Poulton K, Poulton J. The mitochondrial genome in Wolfram syndrome. J Med Genet 2000;37:463–466.

    Google Scholar 

  25. Takeda K, Inoue H, Tanizawa Y, Matsuzaki Y, Oba J, Watanabe Y, Shinoda K, Oka Y. WFS1 (Wolfram syndrome 1) gene product: Predominant subcellular localisation to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Human Molecular Genetics 2001;10:477–484.

    Google Scholar 

  26. Gomez-Zaera M, Strom TM, Rodriguez B, Estevill X, Meitinger T, Nunes V. Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. Mol Genet Metab 2001;72:72–81.

    Google Scholar 

  27. Tessa A, Carbone I, Matteoli MC, Bruno C, Patrono C, Patera IP, De Luca F, Lorini P, Santorelli FM. Identification of novel WFS1 mutations in Italian children with Wolfram syndrome. Hum Mutat 2001;17:348–349.

    Google Scholar 

  28. Khanim F, Kirk J, Latif F, Barrett T. WFS1/Wolframin mutations, Wolfram syndrome, and associated diseases. Hum Mutat 2001;17:357–367.

    Google Scholar 

  29. Ohata T, Koizumi A, Kayo T, Shoji Y, Watanabe A, Monoh K, Higashi K, Ito S, Ogawa O, Wada Y, Takada G. Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family. Hum Genet 1998;103:470–474.

    Google Scholar 

  30. Furlong RA, Ho LW, Rubinstein JS, Michael A, Walsh C, Paykel ES, Rubinstein DC. A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases. Neurosci Lett 1999;277:123–126.

    Google Scholar 

  31. Evans KL, Lawson D, Meitinger TT, Blackwood DHR, Porteous DJ. Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder. Am J Med Genet 2000;96:158–160.

    Google Scholar 

  32. Middle F, Jones I, McCandless F, Barrett T, Khanim F, Owen MJ, Lendon C, Craddock N. Bipolar disorder and variation at a common polymorphism (A1832G) within exon 8 of theWolfram gene. Am J Med Genet 2000;96:154–157.

    Google Scholar 

  33. Ohtsuki T, Ishiguro H, Yoshikawa T, Arinami T. WFS1 gene mutation search in depressive patients: Detection of 5 missense polymorphisms but no association with depression or bipolar affective disorder. J Affect Disord 2000;58:11–17.

    Google Scholar 

  34. Torres R, Leroy E, Hu X, Katrivana A, Gouzis P, Papachatzopoulou A, Athanassiadou A, Beratis S, Collier D, Polymeropoulos MH. Mutation screening of the Wolfram syndrome gene in psychiatric patients. Mol Psychiatr 2001;6:39–43.

    Google Scholar 

  35. Young TL, Ives E, Lynch E, Person R, Snook S, MacKlaren L, Cator T, Griffin A, Fernandez B, Lee MK, King M-C. Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Hum Mol Genet 2001;10:2509–2514.

    Google Scholar 

  36. Bespalova IN, Van Camp G, Bom SJH, Brown DJ, Cryns K, DeWan AT, Erson AE, Flothman K, Kunst HPM, Kurnool P, Sivakumaran TA, Cremers CWRJ, Leal SM, Burmeister M, Lesperance MM. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of lowfrequency sensorineural hearing loss. Hum Mol Genet 2001;10:2501–2508.

    Google Scholar 

  37. Awata T, Inoue K, Hurihara S, Ohkubo T, Onoue I, Abe T, Takino H, Kanazawa Y, Katayama S. Missense variations of the gene responsible for Wolfram syndrome (WFS1/Wolframin) in Japanese: Possible contribution of the arg456his mutation to type 1 diabetes as a non-autoimmune genetic basis. Biochem Biophys Res Commun 2000;268:612–616.

    Google Scholar 

  38. Minton JAL, Hattersley AT, Owen K, McCarthy MI, Walker M, Latif F, Barrett T, Frayling TM. Association studies of genetic variation in the WFS1 gene and type 2 diabetes in UK populations. Diabetes 2002;51:1287–1290.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Minton, J.A., Rainbow, L.A., Ricketts, C. et al. Wolfram Syndrome. Rev Endocr Metab Disord 4, 53–59 (2003). https://doi.org/10.1023/A:1021875403463

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/A:1021875403463

Navigation