Abstract Leigh syndrome is a severe early-onset progressive neurodegenerative disorder due to mitochondrial oxidative phosphorylation defects. Nuclear SURF1 mutations are the main causes of Cytochrome C oxidase deficiency resulting in Leigh syndrome. This study reviewed the clinical and genetic characteristics of a Chinese girl with Leigh syndrome due to 604G>C heterozygous mutation in SURF1. The female patient fell ill at age of 9 months, manifesting with feeding difficulty, malnutrition, progressive motor degeneration, hypotonia and nystagmus. She was hospitalized at 17 months and died of respiratory failure at 23 months. Her blood lactate and pyruvate levels detected during admission were significantly increased. Brain MR imaging showed characteristic focal, bilateral lesions in brain stem, thalamus, and basal ganglia. Brain stem and cerebellar atrophy were also found. Mitochondrial gene mutations were excluded. All of the exons of SURF1 amplified by polymerase chain reaction (PCR) sequencing and PCR-Restriction Fragment Length Polymorphism (RFLP) showed a 604G>C heterozygous mutation of SURF1 in the proband. Her mother and uncle had the mutations of SURF1 but no mutations were identified in her father and in 100 normal controls aged 14-18 years. This is the first reported case in China of Leigh syndrome due to 604G>C heterozygous mutation in SURF1 and it will be helpful for the diagnosis of Leigh syndrome and genetic counseling of the patient′s pedigree in future.
SUN Fang,YANG Yan-Ling,QI Yu et al. 604G>C heterozygous mutation of SURF1 identified in a Chinese pedigree with Leigh syndrome[J]. 中国当代儿科杂志, 2005, 7(2): 115-118.
SUN Fang,YANG Yan-Ling,QI Yu et al. 604G>C heterozygous mutation of SURF1 identified in a Chinese pedigree with Leigh syndrome[J]. CJCP, 2005, 7(2): 115-118.
