OMIM: 251880Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | DGUOK |
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| Dna Change: | c.444-62C>A |
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| Protein Change: | |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Splice site |
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| Location: | intron 3 |
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| Transcript: | NM_080916.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Morocco | NA | NA | 1 patients /1 family | NA | Brahimi N et al., 2009Brahimi N, Jambou M, Sarzi E, Serre V, Boddaert N, Romano S, de Lonlay P, Slama A, Munnich A, Rötig A, Bonnefont JP, Lebre AS, . The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.. Mol. Genet. Metab.. 2009; 97(3):221-6 |
| Tunisia | NA | NA | 1 patients /1 family | NA | Brahimi N et al., 2009Brahimi N, Jambou M, Sarzi E, Serre V, Boddaert N, Romano S, de Lonlay P, Slama A, Munnich A, Rötig A, Bonnefont JP, Lebre AS, . The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.. Mol. Genet. Metab.. 2009; 97(3):221-6 |
References
Brahimi N, Jambou M, Sarzi E, Serre V, Boddaert N, Romano S, de Lonlay P, Slama A, Munnich A, Rötig A, Bonnefont JP, Lebre AS, The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.Mol. Genet. Metab.. 2009; 97(3):221-6