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首页> 外文期刊>Archives of Neurology >Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.
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Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.

机译：肝脑线粒体DNA损耗综合症引起的脱氧鸟苷激酶(DGUOK)突变。

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BACKGROUND: Autosomal recessive mutations in deoxyguanosine kinase (DGUOK) have been identified in the hepatocerebral form of mitochondrial DNA (mtDNA) depletion syndrome. OBJECTIVES: To describe the clinical spectrum of DGUOK-related mtDNA depletion syndrome in 6 children and to summarize the literature. RESULTS: We identified pathogenic mutations in DGUOK in 6 children with the hepatocerebral form of mtDNA depletion syndrome. We describe the clinical, neuroradiologic, histologic, and genetic features in these children. All children showed severe hepatopathy, while involvement of other organs (skeletal muscle and brain) was variable. We identified 5 novel mutations (1 of them in 2 children) and 2 previously described mutations. Three different mutations affected the initial methionine, suggesting a mutational hot spot. One of our patients underwent liver transplantation; pathologic findings revealed (in addition to diffuse hepatopathy) a hepatocellular carcinoma, implying a possible link between mtDNAdepletion syndrome and tumorigenesis. CONCLUSION: We studied 12 children with infantile hepatoencephalopathies and mtDNA depletion syndrome and found pathogenic DGUOK mutations in 6, suggesting that this gene defect is a frequent but not an exclusive cause of the hepatic form of mtDNA depletion syndrome.
机译：背景:常染色体隐性突变脱氧鸟苷激酶(DGUOK)中确定的肝脑形式线粒体DNA (mtDNA)消耗综合症。目的:描述的临床表现DGUOK-related mtDNA消耗综合症在6儿童和文献总结。结果:我们发现致病突变在6个孩子DGUOK肝脑形式mtDNA消耗综合征。临床、neuroradiologic、组织学和这些孩子的遗传特性。显示严重的肝病,而参与的其他器官(骨骼肌和大脑)变量。两个孩子)和2先前描述突变。最初的蛋氨酸,表明突变热的位置。移植;肝细胞弥漫性肝病)癌,暗示可能的联系mtDNAdepletion综合症和肿瘤发生。结论:我们研究了12名儿童和婴儿hepatoencephalopathies和mtDNA损耗综合症,发现致病DGUOK突变6,这表明这个基因缺陷是一个频繁但不是独家的肝形式的原因mtDNA消耗综合症。

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