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.


METHODS
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.


CONCLUSIONS
These data confirm that DGK mutations typically affect the liver and brain.
Mancuso
Michelangelo
M
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
Ferraris
Silvio
S
Pancrudo
Jacklyn
J
Feigenbaum
Annette
A
Raiman
Julian
J
Christodoulou
John
J
Thorburn
David R
DR
DiMauro
Salvatore
S
D015152:Blotting, Northern / Q000379:methods; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006501:Hepatic Encephalopathy / Q000209:etiology*; D006720:Homozygote; D006801:Humans; D007223:Infant; D008099:Liver / Q000378:metabolism; D028361:Mitochondrial Diseases / Q000150:complications* / Q000235:genetics*; D009132:Muscles / Q000378:metabolism; D009154:Mutation; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D035781:Siblings
D012333:RNA, Messenger; D017853:Phosphotransferases (Alcohol Group Acceptor); C019165:deoxyguanosine kinase