Mutations in the nuclear gene DGUOK, encoding deoxyguanosine kinase, cause an infantile hepatocerebral type of mitochondrial depletion syndrome (MDS). We report 6 MDS patients harboring bi-allelic DGUOK mutations, of which 3 are novel, including a large intragenic Austrian founder deletion. One patient was diagnosed with hepatocellular carcinoma aged 6 months, supporting a link between mitochondrial DNA depletion and tumorigenesis; liver transplantation proved beneficial with regard to both tumor treatment and psychomotor development.
*Department of Pediatrics I, Medical University of Innsbruck, Innsbruck
†Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna
‡Department of Pediatrics, Medical University of Graz, Graz
§Division of Pediatrics, LKH Leoben, Leoben
||Department of Pediatrics, Paracelsus Medical University, SALK Salzburg, Salzburg
¶Institute of Pathology, Medical University of Graz, Graz
#Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Address correspondence and reprint requests to Andreas R. Janecke, MD, Department of Pediatrics I and Division of Human Genetics, Medical University of Innsbruck, Anichstrasse 35, A-6020 Innsbruck, Austria (e-mail: Andreas.Janecke@i-med.ac.at).
Received 23 April, 2018
Accepted 4 September, 2018
This work was supported by Jubiläumsfonds der Österreichischen Nationalbank (project 16678) and the E-Rare project GENOMIT, Austrian Science Fonds (I 2741-B26).
The authors report no conflicts of interest.