A novel mutation in the DGUOK gene in a Turkish
newborn with mitochondrial depletion syndrome.

M. Kiliç; H.s. Sivri; A. Dursun; A. Tokatli; Linda De Meirleir; Sara Seneca; Z. Akçören; S. Yigit; H. Topaloglu

A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.

M. Kiliç, H.s. Sivri, A. Dursun, A. Tokatli, Linda De Meirleir, Sara Seneca, Z. Akçören, S. Yigit, H. Topaloglu

Pediatrics

Research output: Contribution to journal › Article › peer-review

12 Citations (Scopus)

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.

Original language	English
Pages (from-to)	79-82
Number of pages <span style="color:red"p> <font size="1.5"> ✽ </span> </font>	4
Journal	Turk J Pediatr.
Volume	53
Publication status	Published - 1 Jan 2011

Keywords

mtDNA depletion syndrome
mtDNA
Deoxyguanosine kinase gene
DGUOK gene

FWOAL377: Molecular investigations in the patients with defects in the complexes of the oxidative phosphorylation and the pyruvate dehydrogenase complex.
De Meirleir, L., Seneca, S. & Lissens, W.
1/01/06 → 31/12/09
Project: Fundamental
OZR1216: Molecular investigations in the patients with defects in the complexes of the oxidative phosphorylation and the pyruvate dehydrogenase complex.
De Meirleir, L., Lissens, W., Seneca, S. & De Meirleir, L.
1/01/06 → 31/12/08
Project: Fundamental

Cite this

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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.",

keywords = "mtDNA depletion syndrome, mtDNA, Deoxyguanosine kinase gene, DGUOK gene",

author = "M. Kili{\c c} and H.s. Sivri and A. Dursun and A. Tokatli and {De Meirleir}, Linda and Sara Seneca and Z. Ak{\c c}{\"o}ren and S. Yigit and H. Topaloglu",

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language = "English",

volume = "53",

pages = "79--82",

journal = "Turkish Journal of Pediatrics",

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TY - JOUR

T1 - A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.

AU - Kiliç, M.

AU - Sivri, H.s.

AU - Dursun, A.

AU - Tokatli, A.

AU - De Meirleir, Linda

AU - Seneca, Sara

AU - Akçören, Z.

AU - Yigit, S.

AU - Topaloglu, H.

PY - 2011/1/1

Y1 - 2011/1/1

N2 - 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.

AB - 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.

KW - mtDNA depletion syndrome

KW - mtDNA

KW - Deoxyguanosine kinase gene

KW - DGUOK gene

M3 - Article

VL - 53

SP - 79

EP - 82

JO - Turkish Journal of Pediatrics

JF - Turkish Journal of Pediatrics

SN - 0041-4301

ER -

A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.

Abstract

Keywords

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Projects

FWOAL377: Molecular investigations in the patients with defects in the complexes of the oxidative phosphorylation and the pyruvate dehydrogenase complex.

OZR1216: Molecular investigations in the patients with defects in the complexes of the oxidative phosphorylation and the pyruvate dehydrogenase complex.

Cite this