A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA
- 23 July 2002
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 52 (2) , 237-239
- https://doi.org/10.1002/ana.10247
Abstract
Recently, a homozygous single‐nucleotide deletion in exon 2 of the deoxyguanosine kinase gene (DGUOK) was identified as the disease‐causing mutation in 3 apparently unrelated Israeli‐Druze families with depleted hepatocerebral mitochondrial DNA. We have discovered a novel homozygous nonsense mutation in exon 3 of DGUOK (313C→T) from a patient born to nonconsanguineous German parents. This finding shows that mutations in DGUOK causing mitochondrial DNA depletion are not confined to a single ethnic group.Keywords
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