title: A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA.
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.
authors.affiliation: University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, London, United Kingdom. j.taanman@rfc.ucl.ac.uk
authors.forename: Jan-Willem
authors.initials: JW
authors.lastname: Taanman
authors.forename: Ihab
authors.initials: I
authors.lastname: Kateeb
authors.forename: Ania C
authors.initials: AC
authors.lastname: Muntau
authors.forename: Michaela
authors.initials: M
authors.lastname: Jaksch
authors.forename: Nadine
authors.initials: N
authors.lastname: Cohen
authors.forename: Hanna
authors.initials: H
authors.lastname: Mandel
mesh_terms: D000595:Amino Acid Sequence / Q000235:genetics; D001483:Base Sequence / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000378:metabolism*; D005091:Exons; D005858:Germany / Q000208:ethnology; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D004272:DNA, Mitochondrial; D017853:Phosphotransferases (Alcohol Group Acceptor); C019165:deoxyguanosine kinase