title: A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.
abstract: Deoxyguanosine kinase (DGUOK) catalyzes the first step of the mitochondrial deoxypurine salvage pathway, the phosphorylation of purine deoxyribonucleosides. Mutations in the DGUOK gene have been linked to inherited mitochondrial (mt)DNA depletion syndromes, neonatal liver failure, nystagmus, and hypotonia. We now report a novel homozygous c.34C > T (p.Arg12X) mutation found in an affected newborn of asymptomatic consanguineous parents. Respiratory distress started in the first hours after birth. The patient died at the age of 42 days due to liver failure. This genotype, which is to be expected for a homozygous stop codon mutation in exon 1, is associated with a severe clinical presentation.
authors.affiliation: Unit of Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Kiliç
authors.forename: Hatice Serap
authors.initials: HS
authors.lastname: Sivri
authors.forename: Ali
authors.initials: A
authors.lastname: Dursun
authors.forename: Ayşegül
authors.initials: A
authors.lastname: Tokatli
authors.forename: Linda
authors.initials: L
authors.lastname: De Meirleir
authors.forename: Sara
authors.initials: S
authors.lastname: Seneca
authors.forename: Zuhal
authors.initials: Z
authors.lastname: Akçören
authors.forename: Sule
authors.initials: S
authors.lastname: Yiğit
authors.forename: Haluk
authors.initials: H
authors.lastname: Topaloğlu
authors.forename: Turgay
authors.initials: T
authors.lastname: Coşkun
mesh_terms: D000140:Acidosis, Lactic; D018388:Codon, Terminator / Q000235:genetics; D003241:Consanguinity; D004272:DNA, Mitochondrial / Q000235:genetics*; D017809:Fatal Outcome; D006501:Hepatic Encephalopathy / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000473:pathology; D017093:Liver Failure; D008297:Male; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D012131:Respiratory Insufficiency / Q000235:genetics; D013577:Syndrome; D014421:Turkey
chemical_list: D018388:Codon, Terminator; D004272:DNA, Mitochondrial; D017853:Phosphotransferases (Alcohol Group Acceptor); C019165:deoxyguanosine kinase