Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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

Wolfram-Syndrom
Diabetes insipidus, Diabetes mellitus, Optikusatrophie und Schwerhörigkeit
Wolfram-Syndrom 1
WFS1
Wolfram-Syndrom 2

Referenzen:

1.

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

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2.

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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3.

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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4.

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

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5.

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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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.

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7.

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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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.

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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).

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10.

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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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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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19.

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

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20.

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

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21.

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

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22.

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

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23.

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

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24.

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

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25.

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

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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.

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27.

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

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28.

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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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.

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30.

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

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31.

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

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32.

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

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33.

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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34.

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

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35.

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

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36.

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

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37.

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

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38.

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

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39.

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

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40.

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

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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.

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