线粒体ND5基因13513G＞A突变导致Leigh综合征

Mitochondrial ND5 as the causative gene of Leight syndrome

目的 分析1个母系遗传的Leigh综合征家系的线粒体突变.方法 描述该家系患者的临床和实验室特点,应用DNA芯片结合直接测序对该家系患者进行全线粒体DNA测序.结果 该Leigh综合征家系患者临床以生长发育延迟、精神运动迟滞、呼吸节律异常、颅神经麻痹、小脑共济失调、抽搐为主要特征.神经影像学显示中脑、双侧大脑脚、导水管周围灰质、小脑齿状核及双侧丘脑受累.伴乳酸、丙酮酸代谢异常.突变分析证实该Leigh综合征家系由线粒体ND5＊13513G＞A突变所致.结论 ND5突变导致的母系遗传的Leigh综合征有某些特点,ND5＊13513G＞A突变可作为Leigh综合征患者的高频候选位点.

Objective To report a Chinese Han family with two patients of Leigh syndrome （LS） and to scan the mutation in mitochondrial DNA（mtDNA）. Methods The clinical features and the laboratory findings were summarized. Mitochondrial DNA chip and direct sequencing were performed to detect the mutation in entire mtDNA. Results Failure of thrive, psychomotor retardation, hypotonia and weakness,cerebellar ataxia, and seizure were the main manifestations of the family. Brain magnetic resonance imaging （MRI） showed lesions at midbrain, periaqueductal gray matter, dentate nuclei of cerebellar and thalami.The levels of lactic acid and pyruvate were mildly abnormal. The mutation of ND5 ＊ 13513G〉 A was identified in the LS family. Conclusion Patients with ND5 ＊ 13513G 〉 A mutation may have a characteristic clinical course and ND5 ＊ 13513G〉A might be a preferential candidate mutation of Leigh syndrome.