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Severe Deoxyguanosine Kinase Deficiency in Austria

A 6-Patient Series

Waich, Stephanie*; Roscher, Anne; Brunner-Krainz, Michaela; Cortina, Gerard*; Köstl, Gerhard§; Feichtinger, Rene G.||; Entenmann, Andreas*; Müller, Thomas*; Knisely, A.S.; Mayr, Johannes A.||; Janecke, Andreas R.*,#; Vodopiutz, Julia

Journal of Pediatric Gastroenterology and Nutrition: January 2019 - Volume 68 - Issue 1 - p e1–e6
doi: 10.1097/MPG.0000000000002149
Short Communication: Hepatology

ABSTRACT 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.

© 2019 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,