The clinical and genetic characteristics in children with mitochondrial disease in China

• Published in: Science China. Life sciences Vol. 60; no. 7; pp. 746 - 757
• Main Authors: Fang, Fang, Liu, Zhimei, Fang, Hezhi, Wu, Jian, Shen, Danmin, Sun, Suzhen, Ding, Changhong, Han, Tongli, Wu, Yun, Lv, Junlan, Yang, Lei, Li, Shufang, Lv, Jianxin, Shen, Ying
• Format: Journal Article
• Language: English
• Published: Beijing Science China Press 01-07-2017; Springer Nature B.V
• Subjects: Acidosis; Age; Biomedical and Life Sciences; Child; Child, Preschool; Children; Female; Genetic Association Studies; Genetic Testing; High-Throughput Nucleotide Sequencing; Humans; Infant; Infant, Newborn; Lactic acidosis; Life Sciences; Male; MELAS syndrome; Mitochondrial Diseases - genetics; Mitochondrial DNA; mtDNA突变; Mutation; Research Paper; Stroke; Stroke-like episodes; 中国; 临床医生; 北京儿童医院; 基因突变; 线粒体疾病; 线粒体病; 遗传特点; China; targeted next generation sequencing; gene; mitochondrial disease; clinical features
• ISSN: 1674-7305; 1869-1889
• DOI: 10.1007/s11427-017-9080-y

Mitochondrial disease was a clinically and genetically heterogeneous group of diseases, thus the diagnosis was very difficult to clinicians. Our objective was to analyze clinical and genetic characteristics of children with mitochondrial disease in China. We tested 141 candidate patients who have been suspected of mitochondrial disorders by using targeted next-generation sequencing（NGS）, and summarized the clinical and genetic data of gene confirmed cases from Neurology Department, Beijing Children＇s Hospital, Capital Medical University from October 2012 to January 2015. In our study, 40 cases of gene confirmed mitochondrial disease including eight kinds of mitochondrial disease, among which Leigh syndrome was identified to be the most common type, followed by mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes（MELAS）. The age-of-onset varies among mitochondrial disease, but early onset was common. All of 40 cases were gene confirmed, among which 25 cases（62.5%）with mitochondrial DNA（mtDNA） mutation, and 15 cases（37.5%） with nuclear DNA（nDNA） mutation. M.3243A〉G（n=7）accounts for a large proportion of mtDNA mutation. The nDNA mutations include SURF1（n=7）,PDHA1（n=2）,and NDUFV1,NDUFAF6, SUCLA2, SUCLG1, RRM2 B, and C12orf65, respectively.