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.
Taanman
Jan-Willem
JW
University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, London, United Kingdom. j.taanman@rfc.ucl.ac.uk
Kateeb
Ihab
I
Muntau
Ania C
AC
Jaksch
Michaela
M
Cohen
Nadine
N
Mandel
Hanna
H
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*
D018389:Codon, Nonsense; D004272:DNA, Mitochondrial; D017853:Phosphotransferases (Alcohol Group Acceptor); C019165:deoxyguanosine kinase