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Leigh综合征是一种由于线粒体氧化磷酸化障碍所导致的严重退行性脑病。常染色体SURF1基因突变所致细胞色素C氧化酶缺乏是导致Leigh综合征的常见原因,国外已报道多种突变类型。该研究回顾了1例SURF1基因604G>C杂合性错义突变所致中国人Leigh综合征患者及其家系的临床与遗传学特点。患者,女, 9个月起病,表现为喂养困难,营养不良,进行性运动倒退,肌张力低下,眼震。17个月时来院就诊, 23个月时死于呼吸衰竭。脑MRI显示双侧基底节对称性损害,脑干、小脑萎缩。聚合酶链式反应扩增SURF1基因的全部外显子,进行序列测定及限制性片断长度多态性分析均显示患者及其母亲、舅舅的SURF1基因的外显子7存在一个604G>C杂合性错义突变,其父亲及正常对照的相关外显子序列未发现异常。该研究首次报道了1例中国人群中由于SURF1基因604G>C杂合性错义突变导致的Leigh综合征及其家系,不仅明确了病因,亦将有助于今后对患者家系的遗传咨询。
Leigh’s syndrome is a severe degenerative brain disease caused by mitochondrial oxidative phosphorylation. Cytochrome C oxidase deficiency caused by autosomal mutation of SURF1 gene is a common cause of Leigh syndrome. A variety of mutations have been reported in foreign countries. This study reviewed the clinical and genetic characteristics of a Chinese patient with Leigh’s syndrome and its pedigree due to a 604G> C heterozygous missense mutation in the SURF1 gene. Patients, women, 9 months of onset, manifested as feeding difficulties, malnutrition, progressive exercise regress, hypotonia, nystagmus. She was hospitalized at 17 months and died of respiratory failure at 23 months. Brain MRI showed bilateral basal ganglia symmetry damage, brainstem, cerebellar atrophy. Polymerase chain reaction amplification of SURF1 gene exons, sequencing and restriction fragment length polymorphism analysis showed that patients and their mothers, uncle SURF1 gene exon 7 there is a 604G> C heterozygous Sex missense mutations, the father and normal controls related to the sequence of the exon was not found abnormal. This study reports for the first time in a Chinese population Leigh syndrome and its pedigree due to a heterozygous mutation in SURF1 gene 604G> C, which not only identifies the cause of disease but also contributes to the future genetic counseling of the patient’s pedigree.