Two cases of Wolfram syndrome;Syndrome de Wolfram. À propos de deux cas

Journal Francais d'Ophtalmologie

Volumn 30, Issue 6, 2007, Pages 607-609

  Sayouti, A ^a,b   Benhaddou, R ^a   Khoumiri, R ^a   Gaboune, L ^a   Guelzim, H ^a   Benfdil, N ^a   Moutaoukil, A ^a  

^a CENTRE HOSPITALIER UNIVERSITAIRE MOHAMMED VI   (Morocco)

^b Bab Khemis   (Morocco)

Author keywords

Clinical; Diabetes mellitus; Genetic; Optic atrophy; Wolfram syndrome; Wolframine

Indexed keywords

MEMBRANE PROTEIN; MITOCHONDRIAL DNA; UNCLASSIFIED DRUG; WOLFRAMIN PROTEIN;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 4; CLASSIFICATION; DISEASE COURSE; FEMALE; GENE DELETION; GENETICS; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MALE; OPTIC NERVE ATROPHY; RECESSIVE GENE; VISUAL ACUITY; VISUAL DISORDER; VISUAL FIELD; WOLFRAM SYNDROME;

ADOLESCENT; CHILD; CHROMOSOMES, HUMAN, PAIR 4; DIABETES MELLITUS, TYPE 1; DISEASE PROGRESSION; DNA, MITOCHONDRIAL; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MEMBRANE PROTEINS; OPTIC ATROPHY; SEQUENCE DELETION; VISION DISORDERS; VISUAL ACUITY; VISUAL FIELDS; WOLFRAM SYNDROME;

EID: 34447619185     PISSN: 01815512     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0181-5512(07)89665-3     Document Type: Article

References (18)

1. Domenech E, Gomez-Zaera M, Nunes V. WFS1 mutations in spanish patients with diabetes mellitus and deafness. Europ J Hum Genet, 2002;10:421-6.
2. Wolfram DJ, Wagner HP. Diabet mellitus and siole optic atrophy among sibling: Report of four cases. Mayo Clin Proc, 1938;13:715-8.
3. Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of wolfram (DIDMOAD) syndrome. Lancet, 1995;346:1458-63.
4. Barrett TG, Bundey SE. Wolfram (DIDMOAD) syndrome. J Med Genet, 1997;34:838-41.
5. Khanim F, Kirk J, Latif F, Barrett TG. WFS1-wolframin mutations, wolfram syndrome, and associated diseases. Hum Mutat, 2001;17:357-67.
6. Hajji Z, Halhal M, Chaoui Z, Chefchaouni M, Agnaou L, Berraho A. Syndrome de Wolfram a propos de 3 cas. J Fr Ophtalmol, 1998;21:734-40.
7. 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;8:95-7.
8. Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, Bernal-Mizrachi E, et al. A gene encoding a transmembrane protein is muted in patients with diabetes mellitus and optique atrophy (wolfram syndrome). Nat Genet, 1998;20:143-8.
9. Strom TM, Hortnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, 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;13:2021-8.
10. Takeda K, Inoue H, Tanizawa Y, Matsuzaki Y, Oba J, Watanabe Y, et al. WFS1 (wolfram syndrome 1) gene product: predominant subcellular localisation to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum Mol Genet, 2001;10:477-84.
11. Scolding NJ, Kellarwood HF, Show C, Shneerson JM, Antoun N. Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy. Ann Neurol, 1996;39:352-60.
12. Giuliano F, Bannwarth S, Monnot S, Cano A, Chabrol B, Vialettes B, et al. French Group of WS. Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene. Hum Mutat, 2005;25:99-100.
13. 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;66:1229-36.
14. al-Sheyyab M, Jarrah N, Younis E, Shennak MM, Hadidi A, Awidi A, et al. Bleeding tendency in wolfram syndrome: a newly identified feature with phenotype genotype correlation. Eur J Pediatr, 2001;160:243-6.
15. Rotig A, Cormier V, Chatelain P, Francois R, Saudubray JM, Rustin P, et al. Deletion of mithochondrial DNA in case of early-onset diabet mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome). J Inherit Metab Dis, 1993;16:527-30.
16. Barrientos A, Casademont J, Saiz A, Cardellach F, Volpini V, Solans A, et al. Autosomal recessive Wolfram syndrome associated with an 8.5-kb mt DNA single deletion. Am J Hum Genet, 1996;58:963-70.
17. Jackson MJ, Bindoff LA, Weber K, Wilson JN, Ince P, Alberti KG, et al. Biochemical and molecular studies of mithochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Diabetes Care, 1994;17:728-33.
18. Barrett TG, Scott-Brown M, Seller A, Bednarz A, Poulton K, Poulton J. The mithochondrial genome in Wolfram syndrome. J Med Genet, 2000;37:463-6.