title: New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.
abstract: 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.
authors.affiliation: Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Mancuso
authors.forename: Silvio
authors.initials: S
authors.lastname: Ferraris
authors.forename: Jacklyn
authors.initials: J
authors.lastname: Pancrudo
authors.forename: Annette
authors.initials: A
authors.lastname: Feigenbaum
authors.forename: Julian
authors.initials: J
authors.lastname: Raiman
authors.forename: John
authors.initials: J
authors.lastname: Christodoulou
authors.forename: David R
authors.initials: DR
authors.lastname: Thorburn
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
mesh_terms: 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
chemical_list: D012333:RNA, Messenger; D017853:Phosphotransferases (Alcohol Group Acceptor); C019165:deoxyguanosine kinase