从规范化诊治视角研究C19orf12基因纯合突变导致线粒体膜蛋白相关性神经变性病例

Research on the Cases of Mitochondrial Membrane Protein Associated Neurodegeneration Caused by Homozygous Mutation of C19orf12 Gene from the Perspective of Standardized Diagnosis and Treatment

目的:结合文献分析一例线粒体膜蛋白相关性神经变性病(MPAN)临床特征与C19orf12基因突变特点,为MPAN的规范化诊治提供依据。方法:分析2016年6月在复旦大学附属儿科医院神经内科就诊的一例患儿临床特征,通过全外显子测序技术进行基因突变筛查。结果:一例近亲夫妇所生的男孩5岁开始出现行走不稳,进而出现双眼视力下降。检查发现视神经萎缩,神经影像学显示双侧苍白球、大脑脚对称性异常信号。遗传分析发现C19orf12基因p.Gly65Glu纯合突变。该患儿最终被诊断为MPAN。结论:该研究报道了一例散发C19orf12基因纯合突变的MPAN患儿促进了临床对本病的规范化诊治。

Objective: To analyze the clinical features and C19orf12 gene mutation of a case of mitochondrial membrane protein associated neurodegenerative disease(MPAN), and to provide the basis for the standardized diagnosis and treatment of MPAN. Methods: The clinical features of a patient who was admitted to the Department of Neurology,Children’s Hospital of Fudan University in June 2016 were analyzed, and gene mutation screening was performed with whole exome sequencing technology. Results: A boy born to a close relative couple began to walk unsteadily at the age of 5 years old, and then his binocular vision decreased. Examination revealed optic atrophy, and neuroimaging showed symmetrical abnormal signals in bilateral Globus Pallidus and cerebral peduncle. Genetic analysis revealed the C19orf12Gene P. Gly65Glu homozygous mutation. The child was eventually diagnosed with MPAN. Conclusion: This study reports a case of MPAN with sporadic homozygous mutations in the C19orf12 gene, which promotes the standardized diagnosis and treatment of MPAN.