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目的研究1例因常染色体Surfe it 1(SURF1)基因2个新突变所致Le igh综合征女童的临床及其突变特点。方法患儿为第一胎,生后运动发育落后,4岁时出现肢体震颤,进行性加重,伴运动倒退。4岁6个月来院时不能独站,左侧肢体痉挛性瘫痪,血乳酸、丙酮酸增高,腓肠肌活检未见异常。脑MR I显示双侧基底节、小脑脚上交叉多发性软化灶,符合Le igh综合征诊断。患者曾口服安坦、维生素B1等药物无效,12岁死于肺炎、呼吸衰竭。本研究运用聚合酶链式反应扩增SURF1基因的9个外显子序列,对患儿及103名正常人的外周血白细胞DNA进行正反向序列测定检测突变。结果患者线粒体基因筛查未见异常,SURF1基因测序发现了分别位于内含子3的240+1G>C剪切位点突变和外显子6的574C>G错义突变两个杂合性新突变。结论细胞色素C氧化酶缺陷是Le igh综合征的常见原因,本研究通过对1例中国Le igh综合征患者的SURF1基因分析,首次发现了240+1G>C和574C>G两个新突变,不仅明确了患者病因,并将进一步充实人类Le igh综合征致病基因库。
Objective To study the clinical features and clinical characteristics of one girl with Leigh syndrome due to two new mutations of the autosomal Surfe it 1 (SURF1) gene. Methods Children were the first child, after birth, physical development and backwardness, limb tremor occurred 4 years old, progressive increase, with exercise regress. 4-year-old to hospital 6 months can not stand alone, the left limb spastic paralysis, blood lactic acid, pyruvate increased gastrocnemius muscle biopsy showed no abnormalities. Cerebral MR I showed bilateral basal ganglia, cerebellar feet crossed multiple soft lesions, in line with Leigh syndrome diagnosis. Patients had oral Antan, vitamin B1 and other drugs ineffective, 12-year-old died of pneumonia, respiratory failure. In this study, 9 exons of SURF1 gene were amplified by polymerase chain reaction (PCR), and the positive and negative sequences of peripheral blood leukocyte DNA in 103 children and 103 normal people were detected. Results There were no abnormalities in the mitochondrial DNA screening. SURF1 gene sequencing found that the 240 + 1G> C cleavage site in intron 3 and the 574C> G missense mutation in exon 6 were both heterozygous mutation. Conclusions Cytochrome C oxidase deficiency is a common cause of Leigh syndrome. In this study, two new mutations, 240 + 1G> C and 574C> G, were first found in SURF1 gene of a Chinese Leigh syndrome patient. Not only clear the etiology of patients, and will further enrich the human Leigh syndrome pathogenic gene pool.