1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-19-58-a 10.15844/pedneurbriefs-19-8-2 Mitochondrial Cytopathies Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Hepatocerebral Mitochondrial DNA Depletion http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 08 2005 01 03 2016 19 8 58 58 Copyright: © 2005 The Author(s) 2005 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome

Two novel homozygous mutations, G352A and C269T, are documented in the gene for deoxyguanosine kinase (DGK) in 3 children with hepatocerebral mitochondrial DNA depletion syndrome reported from Columbia University College of Physicians and Surgeons, New York; University of Pisa, Italy; University of Toronto, Canada; and University of Melbourne, Australia.

 Hepatocerebral Mitochondrial DNA Depletion Deoxyguanosine Kinase Nystagmus

Two novel homozygous mutations, G352A and C269T, are documented in the gene for deoxyguanosine kinase (DGK) in 3 children with hepatocerebral mitochondrial DNA depletion syndrome reported from Columbia University College of Physicians and Surgeons, New York; University of Pisa, Italy; University of Toronto, Canada; and University of Melbourne, Australia. All 3 patients developed liver failure and metabolic acidosis in early infancy, one also had cerebral atrophy and nystagmus, a second had microcephaly, hypotonia, and nystagmus, and a third, optic dysplasia with nystagmus and muscle involvement. DGK mutations resulted in truncated polypeptides. In patient 3, who developed multisystem disease, liver transplantation did not prevent brain dysfunction. Systemic involvement portends poor long-term prognosis. [1]

COMMENT. Mitochondrial DNA depletion syndrome can affect one, particularly muscle or liver, or multiple organs, and the liver is most frequently affected in DGK gene mutations. Primary mtDNA depletion syndrome is transmitted as an autosomal recessive trait.

Mancuso M Ferraris S Pancrudo J Feigenbaum A Raiman J Christodoulou J New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome Arch Neurol 2005 May 62 5 745 747 10.1001/archneur.62.5.745 15883261