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Wolfram-Syndrom 1 Gen

Mutationen des WFS1-Gens sind für die autosomal rezessive Erkrankung des Wolfram-Syndroms verantwortlich, welches auch unter der Bezeichnung DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness) bekannt ist. Ebenso kann durch Mutationen eine autosomal dominante Schwerhörigkeit, die mit DFNA6, oder auch DFNA14 und DFNA38 bezeichnet wird.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Wolfram-Syndrom 1
WFS1

Referenzen:

1.

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

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2.

Lesperance MM et al. (1995) A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3.

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3.

Hildebrand MS et al. (2008) Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

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4.

Zatyka M et al. (2008) Sodium-potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress.

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5.

Fukuoka H et al. (2007) Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese.

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6.

Hofmann S et al. (2006) Wolfram syndrome-associated mutations lead to instability and proteasomal degradation of wolframin.

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7.

Fonseca SG et al. (2005) WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells.

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8.

Ishihara H et al. (2004) Disruption of the WFS1 gene in mice causes progressive beta-cell loss and impaired stimulus-secretion coupling in insulin secretion.

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9.

Osman AA et al. (2003) Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium.

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10.

Cryns K et al. (2003) Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.

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11.

Hofmann S et al. (2003) Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product.

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12.

Colosimo A et al. (2003) Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay.

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13.

Komatsu K et al. (2002) Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.

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14.

Domènech E et al. (2002) WFS1 mutations in Spanish patients with diabetes mellitus and deafness.

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15.

Cryns K et al. (2002) Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.

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16.

Young TL et al. (2001) Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.

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17.

Bespalova IN et al. (2001) Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

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18.

Takeda K et al. (2001) WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain.

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19.

Gómez-Zaera M et al. (2001) Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.

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20.

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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21.

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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22.

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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23.

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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24.

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

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25.

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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26.

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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27.

Sandhu MS et al. (2007) Common variants in WFS1 confer risk of type 2 diabetes.

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28.

NCBI article

NCBI 7466 external link
29.

OMIM.ORG article

Omim 606201 external link
30.

Orphanet article

Orphanet ID 120514 external link
Update: 14. August 2020
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