New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.

OBJECTIVE To document novel homozygous mutations in the gene for deoxyguanosine kinase (DGK) in 3 children with mitochondrial DNA depletion. DESIGN Clinical features included liver failure, hypotonia, and nystagmus in 2 siblings, and liver cirrhosis, optic dysplasia, nystagmus, and microcephaly in the third patient. We sequenced the whole coding region of the DGK gene. RESULTS We identified 2 novel homozygous mutations, G352A and C269T, that lead to truncated proteins. CONCLUSION These data confirm that DGK mutations typically affect the liver and brain.