 |
|
New DGK Gene Mutations in the Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome
Michelangelo Mancuso, MD;
Silvio Ferraris, MD;
Jacklyn Pancrudo, BS;
Annette Feigenbaum, MD;
Julian Raiman, MD;
John Christodoulou, MBBS, FRACP, PhD;
David R. Thorburn, PhD;
Salvatore DiMauro, MD
Arch Neurol. 2005;62:745-747.
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.
Author Affiliations: Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY (Drs Mancuso, Ferraris, and DiMauro and Ms Pancrudo); Department of Neurosciences, University of Pisa, Pisa, Italy (Dr Mancuso); Division of Clinical Genetics and Metabolism, The Hospital for Sick Children and University of Toronto, Toronto, Ontario (Drs Feigenbaum and Raiman); and Murdoch Children’s Research Institute, Genetic Health Services Victoria, Royal Children’s Hospital, and Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia (Drs Christodoulou and Thorburn).
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
Clinical Spectrum of Mitochondrial DNA Depletion Due to Mutations in the Thymidine Kinase 2 Gene.
Oskoui et al.
Arch Neurol 2006;63:1122-1126.
ABSTRACT
| FULL TEXT
Hepatocerebral Mitochondrial DNA Depletion Syndrome Caused by Deoxyguanosine Kinase (DGUOK) Mutations.
Freisinger et al.
Arch Neurol 2006;63:1129-1134.
ABSTRACT
| FULL TEXT
|
