Wolfram-Syndrom 1
Allgemein ist das Wolframsyndrom durch Diabetes insipidus, Diabetes mellitus, Optikusatrophie und Taubheit gekennzeichnet. Die hier dargestellte Unterform wird durch Mutationen im WFS1-Gen ausgelöst und zeigt eine autosomal rezessive Vererbung.
Gliederung
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Referenzen:
1. |
El-Shanti H et al. (2000) Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q. [^] |
2. |
Hardy C et al. (1999) Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1. [^] |
3. |
Sam W et al. (2001) Homozygosity for a 4-bp deletion in a patient with Wolfram syndrome suggesting possible phenotype and genotype correlation. [^] |
4. |
Khanim F et al. (2001) WFS1/wolframin mutations, Wolfram syndrome, and associated diseases. [^] |
5. |
Hansen L et al. (2005) Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified. [^] |
6. |
Eiberg H et al. (2006) Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. [^] |
7. |
Inoue H et al. (1998) A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). [^] |
8. |
Strom TM et al. (1998) Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein. [^] |
9. |
Rötig A et al. (1993) Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). [^] |
10. |
Barrientos A et al. (1996) A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. [^] |
11. |
Gossain VV et al. (1975) Co-existent diabetes mellitus and diabetes insipidus, a familial disease. [^] |
12. |
Pilley SF et al. (1976) Familial syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (didmoad) in childhood. [^] |
13. |
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14. |
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15. |
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16. |
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17. |
Cano A et al. (2007) Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome. [^] |
18. |
Salih MA et al. (1991) Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD syndrome). A clinical study in two Sudanese families. [^] |
19. |
Swift RG et al. (1990) Psychiatric findings in Wolfram syndrome homozygotes. [^] |
20. |
Swift RG et al. (1991) Psychiatric disorders in 36 families with Wolfram syndrome. [^] |
21. |
Borgna-Pignatti C et al. (1989) Thiamine-responsive anemia in DIDMOAD syndrome. [^] |
22. |
Friedman E et al. (1986) A variant of the "DIDMOAD" syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). [^] |
23. |
Peden NR et al. (1986) Wolfram (DIDMOAD) syndrome: a complex long-term problem in management. [^] |
24. |
Wit JM et al. (1986) Documented vasopressin deficiency in a child with Wolfram syndrome. [^] |
25. |
Sauer H et al. (1973) [Familial syndrome of diabetes mellitus, primary optic nerve atrophy and inner-ear deafness] [^] |
26. |
Niemeyer G et al. (1972) Retinal function in an unique syndrome of optic atrophy, juvenile diabetes mellitus, diabetes insipidus, neurosensory hearing loss, autonomic dysfunction, and hyperalanineuria. [^] |
27. |
Stevens PR et al. (1972) Familial incidence of juvenile diabets mellitus, progressive optic atrophy, and neurogenic deafness. [^] |
28. |
Bretz GW et al. (1970) Coexistence of diabetes mellitus and insipidus and optic atrophy in two male siblings. Studies and review of literature. [^] |
29. |
Ikkos DG et al. (1970) Association of juvenile diabetes mellitus, primary optic atrophy and perceptive hearing loss in three sibs, with additional idiopathic diabetes mellitus insipidus in one case. [^] |
30. |
Rose FC et al. (1966) The association of juvenile diabetes mellitus and optic atrophy: clinical and genetical aspects. [^] |
31. |
Rorsman G et al. (1967) Optic atrophy and juvenile diabetes mellitus with familial occurrence. [^] |
32. |
Hurley PJ et al. (1967) Histiocytosis x and double diabetes. [^] |
33. |
Polymeropoulos MH et al. (1994) Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. [^] |
34. |
Scolding NJ et al. (1996) Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy. [^] |
35. |
Collier DA et al. (1996) Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity. [^] |
36. |
Fraser FC et al. (1977) Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome? [^] |
37. |
Richardson JE et al. (1977) Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. 3 cases of 'DIDMOAD' syndrome. [^] |
38. |
Page MM et al. (1976) Recessive inheritance of diabetes: the syndrome of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. [^] |
39. |
Swift RG et al. (1998) Predisposition of Wolfram syndrome heterozygotes to psychiatric illness. [^] |
40. |
Gunn T et al. (1976) Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness, and diabetes insipidus--a syndrome. [^] |
41. |
Gabreëls BA et al. (1998) The vasopressin precursor is not processed in the hypothalamus of Wolfram syndrome patients with diabetes insipidus: evidence for the involvement of PC2 and 7B2. [^] |
42. |
OMIM.ORG article Omim 222300 [^] |