Severe DGUOK Deficiency in Austria: A Six-Patient Series

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 6mo, supporting a link between mitochondrial DNA depletion and tumorigenesis; liver transplantation proved beneficial with regard to both tumor treatment and psychomotor development. Address correspondence and reprint requests to Andreas R. Janecke, MD, Department of Paediatrics I & 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 Funding: This work was supported by Jubiläumsfonds der Österreichischen Nationalbank (project 16678) and the E-Rare project GENOMIT, Austrian Science Fonds (I 2741-B26). Conflict of Interest: The authors declare no conflicts of interest. © 2018 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

from Gastroenterology via xlomafota13 on Inoreader https://ift.tt/2NSrnwZ
via IFTTT