Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Diabetes insipidus, Diabetes mellitus, Optikusatrophie und Schwerhörigkeit

Im Unterschied zu den anderen Formen des Wolfram-Syndroms ist DIDMOAD eine mitochondrale Erkrankung. Damit besteht eine Vererbung auf der mütterlichen Linie mit unterschiedlicher Penetranz.

Gliederung

Wolfram-Syndrom
Diabetes insipidus, Diabetes mellitus, Optikusatrophie und Schwerhörigkeit
Wolfram-Syndrom 1
Wolfram-Syndrom 2

Referenzen:

1.

Pilz D et al. (1994) Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD).

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2.

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

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3.

Bundey S et al. (1992) Mitochondrial abnormalities in the DIDMOAD syndrome.

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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).

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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).

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6.

Barrientos A et al. (1996) A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.

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7.

Hofmann S et al. (1997) Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes.

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