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Novel deoxyguanosine kinase gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.线粒体DNA耗竭综合征的脑肝型中的新型脱氧鸟苷激酶基因突变。
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2
Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.与新生儿胆汁淤积和肝衰竭相关的线粒体 DNA 耗竭综合征的临床和分子特征。
J Pediatr. 2014 Mar;164(3):553-9.e1-2. doi: 10.1016/j.jpeds.2013.10.082. Epub 2013 Dec 8.
3
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome.日本线粒体呼吸链疾病的分子诊断：聚焦于线粒体DNA耗竭综合征
Pediatr Int. 2014 Apr;56(2):180-7. doi: 10.1111/ped.12249. Epub 2014 Mar 6.
4
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.线粒体 DNA 耗竭综合征：遗传基础、临床表现和治疗选择的综述及更新。
Neurotherapeutics. 2013 Apr;10(2):186-98. doi: 10.1007/s13311-013-0177-6.
5
A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.一名患有线粒体耗竭综合征的土耳其新生儿中DGUOK基因的一种新型突变。
Turk J Pediatr. 2011 Jan-Feb;53(1):79-82.
6
Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.四例严重进行性肝功能衰竭婴儿中脱氧鸟苷激酶（DGUOK）基因突变与葡萄糖稳态受损和铁过载特征的死后鉴定。
J Appl Genet. 2011 Feb;52(1):61-6. doi: 10.1007/s13353-010-0008-y. Epub 2010 Nov 16.
7
Mitochondrial DNA depletion syndromes--many genes, common mechanisms.线粒体 DNA 耗竭综合征——众多基因，共同机制。
Neuromuscul Disord. 2010 Jul;20(7):429-37. doi: 10.1016/j.nmd.2010.03.017. Epub 2010 May 4.
8
A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping.DGUOK 基因中的 novel c.592-4_c.592-3delTT 突变导致外显子跳跃。
Mitochondrion. 2010 Mar;10(2):188-91. doi: 10.1016/j.mito.2009.11.002. Epub 2009 Nov 10.
9
Genetic causes of mitochondrial DNA depletion in humans.人类线粒体DNA耗竭的遗传原因。
Biochim Biophys Acta. 2009 Dec;1792(12):1103-8. doi: 10.1016/j.bbadis.2009.06.009. Epub 2009 Jul 9.
10
Clinical and molecular features of mitochondrial DNA depletion syndromes.线粒体DNA耗竭综合征的临床和分子特征
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[一名线粒体DNA耗竭综合征婴儿的临床特征及DGUOK突变]

[Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome].

作者信息

Deng Mei, Lin Wei-Xia, Guo Li, Zhang Zhan-Hui, Song Yuan-Zong

机构信息

Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510632, China.

出版信息

Zhongguo Dang Dai Er Ke Za Zhi. 2016 Jun;18(6):545-50. doi: 10.7499/j.issn.1008-8830.2016.06.015.

DOI:10.7499/j.issn.1008-8830.2016.06.015
PMID:27324545
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7389075/
Abstract

The aim of this study was to investigate the clinical features and DGUOK gene mutations of an infant with mitochondrial DNA depletion syndrome (MDS). The patient (more than 7 months old) manifested as hepatosplenomegaly, abnormal liver function, nystagmus and psychomotor retardation. Genetic DNA was extracted from peripheral blood samples of the patient and her parents. Targeted Exome Sequencing was performed to explore the genetic causes. Sanger sequencing was carried out to confirm the detected mutations. The sequencing results showed that the patient was a compound heterozygote for c.679G>A and c.817delT in the DGUOK gene. The former was a reportedly pathogenic missense mutation of maternal origin, while the latter, a frameshift mutation from the father, has not been described yet. The findings in this study expand the mutation spectrum of DGUOK gene, and provide molecular evidence for the etiologic diagnosis of the patient as well as for the genetic counseling and prenatal diagnosis in the family.

摘要

本研究旨在探讨一名患有线粒体DNA耗竭综合征（MDS）婴儿的临床特征及DGUOK基因突变情况。该患者（7个多月大）表现为肝脾肿大、肝功能异常、眼球震颤及精神运动发育迟缓。从患者及其父母的外周血样本中提取基因DNA。进行靶向外显子组测序以探究遗传病因。采用桑格测序法确认检测到的突变。测序结果显示，该患者为DGUOK基因c.679G>A和c.817delT的复合杂合子。前者是据报道源自母亲的致病性错义突变，而后者是来自父亲的移码突变，此前尚未见报道。本研究结果扩展了DGUOK基因的突变谱，为该患者的病因诊断以及该家庭的遗传咨询和产前诊断提供了分子证据。