By contrast to other forms of Wolfram syndrome, DIDMOAD is a mitochondrial disorder and therefore characterized by maternal inheritance and variable penetrance.
Wolfram syndrome | |||
Diabetes insipidus and mellitus with optic atrophy and deafness | |||
Wolfram syndrome 1 | |||
Wolfram syndrome 2 | |||
1. |
Pilz D et al. (1994) Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD). |
2. |
Domènech E et al. (2004) Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome families. |
3. |
Bundey S et al. (1992) Mitochondrial abnormalities in the DIDMOAD syndrome. |
4. |
Rötig A et al. (1993) Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome). |
5. |
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). |
6. |
Barrientos A et al. (1996) A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome. |
7. |
Hofmann S et al. (1997) Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes. |
8. |
OMIM.ORG article Omim 598500 |