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A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA

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.