Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Wolfram syndrome 2

Wolfram syndrome is generally characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. This form is caused by CISD2 mutations and exhibits an autosomal recessive pattern of inheritance.

Systematic

Wolfram syndrome
Diabetes insipidus and mellitus with optic atrophy and deafness
Wolfram syndrome 1
Wolfram syndrome 2
CISD2

References:

1.

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

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2.

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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3.

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

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Update: Sept. 26, 2018