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DGUOK-associated mitochondrial DNA depletion syndrome

MIM.601465

Wednesday 10 March 2010

Synopsis

- idiopathic hepatitis
- liver dysfunction
- nystagmus
- retinal blindness

See also

- mitochondrial DNA depletion syndromes

References

- A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping. Ji JQ, Dimmock D, Tang LY, Descartes M, Gomez R, Rutledge SL, Schmitt ES, Wong LJ. Mitochondrion. 2010 Mar;10(2):188-91. PMID: 19900589

- Mandel, H.; Szargel, R.; Labay, V.; Elpeleg, O.; Saada, A.; Shalata, A.; Anbinder, Y.; Berkowitz, D.; Hartman, C.; Barak, M.; Eriksson, S.; Cohen, N. :
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nature Genet. 29: 337-341, 2001. PubMed ID : 11687800

- Salviati, L.; Sacconi, S.; Mancuso, M.; Otaegui, D.; Camano, P.; Marina, A.; Rabinowitz, S.; Shiffman, R.; Thompson, K.; Wilson, C. M.; Feigenbaum, A.; Naini, A. B.; Hirano, M.; Bonilla, E.; DiMauro, S.; Vu, T. H. : Mitochondrial DNA depletion and dGK gene mutations. Ann. Neurol. 52: 311-316, 2002. PubMed ID : 12205643

- Taanman, J.-W.; Kateeb, I.; Muntau, A. C.; Jaksch, M.; Cohen, N.; Mandel, H. : A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA. Ann. Neurol. 52: 237-239, 2002. PubMed ID : 12210798

- Taanman, J.-W.; Muddle, J. R.; Muntau, A. C. : Mitochondrial DNA depletion can be prevented by dGMP and dAMP supplementation in a resting culture of deoxyguanosine kinase-deficient fibroblasts. Hum. Molec. Genet. 12: 1839-1845, 2003. PubMed ID : 12874104

- Tadiboyina, V. T.; Rupar, A.; Atkison, P. Feigenbaum, A.; Kronick, J.; Wang, J.; Hegele, R. A. : Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. Am. J. Med. Genet. 135A: 289-291, 2005.