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Novel Deoxyguanosine Kinase Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome

✍ Scribed by Sezer, T.; Ozcay, F.; Balci, O.; Alehan, F.


Book ID
127324300
Publisher
SAGE Publications
Year
2014
Tongue
English
Weight
133 KB
Volume
30
Category
Article
ISSN
0883-0738

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Novel mutation in DGUOK in hepatocerebra
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## Abstract Mitochondrial depletion syndrome (MDS) refers to a heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues. Mutations in __DGUOK__ encoding deoxyguanosine kinase (MIM 601465) cause the hepatocerebral form of MDS (MIM 25188

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Published mutations in deoxyguanosine kinase (DGUOK) cause mitochondrial DNA depletion and a clinical phenotype that consists of neonatal liver failure, nystagmus and hypotonia. In this series, we have identified 15 different mutations in the DGUOK gene from 9 kindreds. Among them, 12 have not previ