Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Wolfram-Syndrom 1
WFS1

Referenzen:

1.

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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2.

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

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3.

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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4.

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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5.

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

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6.

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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7.

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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8.

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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9.

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

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10.

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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11.

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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12.

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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13.

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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14.

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

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15.

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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16.

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

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17.

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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18.

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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19.

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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20.

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

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21.

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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22.

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

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23.

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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24.

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

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25.

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

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26.

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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27.

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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