Cystic Leucoencephalopathy in NDUFV1 Mutation
Cystic Leucoencephalopathy in NDUFV1 Mutation
复制标题
DOI：
10.1007/s12098-018-2721-1
复制
发表时间：
2018-12-01
影响因子：
4.3
通讯作者：
Kaushik, Jaya Shankar
中科院分区：
文献类型：
--
作者：
Wadhwa, Yamini;Rohilla, Seema;Kaushik, Jaya Shankar
复合体I缺乏症是最常见的线粒体呼吸链缺陷之一。这种氧化磷酸化的缺陷是由核和线粒体DNA的突变引起的。NDUFV1（呼吸复合体1的黄素结合亚基）的突变导致神经系统症状，包括Leigh综合征和白质脑病。作者报告了一个1岁的男孩，在一次轻微的从床上跌落后，出现了运动里程碑的退化史。磁共振成像显示弥漫性囊性白质脑病，累及胼胝体和脑室周围白质。临床特征和放射学表现可能类似于消失性白质病。下一代测序显示NDUFV1基因8外显子可能存在复合杂合错义致病变异[c]。NDUFV1基因内含子2剪接位点变异（C .155+1G>G/A）。NDUFV1相关的白质脑病必须在表现为突发性运动退行性神经影像学相关的弥漫性囊性白质营养不良的患者中考虑。
Complex I deficiency is one of the most common mitochondrial respiratory chain defect. This deficiency of oxidative phosphorylation results from mutation in nuclear and mitochondrial DNA. Mutations in NDUFV1 (Flavin binding subunit of Respiratory complex 1) results in neurological manifestations including Leigh syndrome and leucoencephalopathy. The authors report a one-year-old boy with history of regression of motor milestones following a trivial fall from thebed. His magnetic resonance imaging revealed diffuse, cystic leucoencephalopathy involving corpus callosum and periventricular white matter. Clinical features and radiological findings may resemble those of vanishing white matter disease. Next generation sequencing revealed likely compound heterozygous missense pathogenic variant in exon 8 of NDUFV1 gene [c.1156C>C/T (p.Arg386Cys)] and possibly novel splice site variation in intron 2 of NDUFV1 gene (c.155+1G>G/A). NDUFV1 related leucoencephalopathy must be considered among those presenting with sudden onset of motor regression with neuroimaging correlate of diffuse cystic leucodystrophy.