Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Wolfram-Syndrom

Das Wolfram-Syndrom ist durch Diabetes insipidus, Diabetes mellitus, Optikusatrophie und Taubheit gekennzeichnet. Zwei Gene sind bekannt, über welche die Erkrankung in autosomal rezessiver form übertragen wird. Davon läßt sich eine mitochondrale form abgrenzen.

Gliederung

Hereditärer Diabetes insipidus
Renaler Diabetes insipidus
Wolfram-Syndrom
Diabetes insipidus, Diabetes mellitus, Optikusatrophie und Schwerhörigkeit
Wolfram-Syndrom 1
WFS1
Wolfram-Syndrom 2
CISD2
Zentraler Diabetes insipidus

Referenzen:

1.

Pilz D et al. (1994) Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD).

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2.

El-Shanti H et al. (2000) Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q.

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3.

Amr S et al. (2007) A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.

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4.

Chen YF et al. (2009) Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice.

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5.

Hardy C et al. (1999) Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1.

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6.

Sam W et al. (2001) Homozygosity for a 4-bp deletion in a patient with Wolfram syndrome suggesting possible phenotype and genotype correlation.

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7.

Khanim F et al. (2001) WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.

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8.

Domènech E et al. (2004) Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families.

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9.

Hansen L et al. (2005) Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified.

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10.

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.

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11.

Inoue H et al. (1998) A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).

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12.

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.

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13.

Bundey S et al. (1992) Mitochondrial abnormalities in the DIDMOAD syndrome.

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14.

Rötig A et al. (1993) Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome).

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15.

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).

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16.

Barrientos A et al. (1996) A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.

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17.

Hofmann S et al. (1997) Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes.

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18.

Gossain VV et al. (1975) Co-existent diabetes mellitus and diabetes insipidus, a familial disease.

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19.

Pilley SF et al. (1976) Familial syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (didmoad) in childhood.

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20.

SHAW DA et al. (1958) Optic atrophy and nerve deafness in diabetes mellitus.

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21.

RAITI S et al. (1963) DIABETES MELLITUS AND INSIPIDUS IN TWO SISTERS.

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22.

Medlej R et al. (2004) Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population.

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23.

Rando TA et al. (1992) Wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging.

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24.

Cano A et al. (2007) Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.

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25.

Salih MA et al. (1991) Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD syndrome). A clinical study in two Sudanese families.

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26.

Swift RG et al. (1990) Psychiatric findings in Wolfram syndrome homozygotes.

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27.

Swift RG et al. (1991) Psychiatric disorders in 36 families with Wolfram syndrome.

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28.

Borgna-Pignatti C et al. (1989) Thiamine-responsive anemia in DIDMOAD syndrome.

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29.

Friedman E et al. (1986) A variant of the "DIDMOAD" syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness).

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30.

Peden NR et al. (1986) Wolfram (DIDMOAD) syndrome: a complex long-term problem in management.

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31.

Wit JM et al. (1986) Documented vasopressin deficiency in a child with Wolfram syndrome.

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32.

Sauer H et al. (1973) [Familial syndrome of diabetes mellitus, primary optic nerve atrophy and inner-ear deafness]

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33.

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.

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34.

Stevens PR et al. (1972) Familial incidence of juvenile diabets mellitus, progressive optic atrophy, and neurogenic deafness.

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35.

Bretz GW et al. (1970) Coexistence of diabetes mellitus and insipidus and optic atrophy in two male siblings. Studies and review of literature.

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36.

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.

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37.

Rose FC et al. (1966) The association of juvenile diabetes mellitus and optic atrophy: clinical and genetical aspects.

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38.

Rorsman G et al. (1967) Optic atrophy and juvenile diabetes mellitus with familial occurrence.

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39.

Hurley PJ et al. (1967) Histiocytosis x and double diabetes.

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40.

Polymeropoulos MH et al. (1994) Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4.

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41.

Scolding NJ et al. (1996) Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy.

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42.

Collier DA et al. (1996) Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity.

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43.

Fraser FC et al. (1977) Diabetes mellitus, diabetes insipidus, and optic atrophy. An autosomal recessive syndrome?

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44.

Richardson JE et al. (1977) Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. 3 cases of 'DIDMOAD' syndrome.

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45.

Page MM et al. (1976) Recessive inheritance of diabetes: the syndrome of diabetes insipidus, diabetes mellitus, optic atrophy and deafness.

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46.

Swift RG et al. (1998) Predisposition of Wolfram syndrome heterozygotes to psychiatric illness.

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47.

Gunn T et al. (1976) Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness, and diabetes insipidus--a syndrome.

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48.

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.

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