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.
|Diabetes insipidus and mellitus with optic atrophy and deafness|
|Wolfram syndrome 1|
|Wolfram syndrome 2|
El-Shanti H et al. (2000) Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q.[^]
Amr S et al. (2007) A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.[^]
Chen YF et al. (2009) Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice.[^]