Clinical and molecular characterization of pediatric mitochondrial disorders in south of China

线粒体DNA 粒线体疾病 线粒体肌病 生物 遗传学 外显子组测序 突变 基因
作者
Chaoping Hu,Xihua Li,Lei Zhao,Yiyun Shi,Shuizhen Zhou,Bingbing Wu,Yi Wang
出处
期刊:European Journal of Medical Genetics [Elsevier]
卷期号:63 (8): 103898-103898 被引量:28
标识
DOI:10.1016/j.ejmg.2020.103898
摘要

Mitochondrial disorders (MDs) are genetic ailments affecting all age groups. Epidemiological data and frequencies of gene mutations in pediatric patients in China are scarce. This retrospective study assessed 101 patients with suspected MDs treated at the Neurology Department of Children's Hospital, Fudan University, in 2011–2017. Mitochondrial (mtDNA) and nuclear (nDNA) samples were assessed by long-range polymerase chain reaction (PCR)-based whole mtDNA sequencing and whole exome sequencing (WES) for identifying pathogenic mutations. Muscle samples underwent various staining protocols and immunofluorescence for detecting selected proteins. Seventeen mutations in the MT-TL1, MT-COX2, MT-ND4, MT, tRNA TRNE, MT-TN, MT-TK, MT-ATP6, MT-ND6, MT-ND3 and MT-CO3 genes were identified in 39 patients, of which m.3243A > G, m.3303C > T, m.8993T > C/G, m.9176T > C, and m.10191T > C were most common. Mitochondrial myopathy and MELAS were most common for m.3243A > G mutation. Four novel mutations were detected, including m.9478insT, m.5666T > C, m.8265T > C, and m.8380–13600 deletion mutations related to Leigh syndrome, mitochondrial myopathy and KSS, respectively. Thirty-three mutations in the TK2, POLG, IBA57, HADHB, FBXL4, ALDH5A1, FOXRED1, TPK1, NDUFAF5, NDUFAF7, NDUFV1, CARS2, PDHA1, and HIBCH genes were identified in 19 patients, including 23 currently unknown. Higher rates of TK2, POLG, IBA57, and HADHB mutations were found in nDNA-mutated MD compared with the remaining individuals. Besides, IBA57 c.286T > C (p.Y96H), TK2 c.497A > T (p.D166V) founder mutations critically contributed to MDs. Comprehensive genomic analysis plays a critical role in pediatric MD diagnosis. These data summarize the relative frequencies of different gene mutations in a large Chinese population, and identified 23 novel MD-associated nDNA and 4 novel mtDNA mutations.
最长约 10秒,即可获得该文献文件

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
大幅提高文件上传限制,最高150M (2024-4-1)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
1秒前
研友_LBRPOL完成签到 ,获得积分10
3秒前
小雷发布了新的文献求助10
8秒前
Cai完成签到,获得积分10
13秒前
miyulong完成签到 ,获得积分10
14秒前
NexusExplorer应助陈秋采纳,获得10
16秒前
高挑的洋葱完成签到,获得积分10
24秒前
和谐的映梦完成签到,获得积分10
24秒前
wBw完成签到,获得积分10
28秒前
Epiphany完成签到 ,获得积分10
29秒前
Mendle完成签到 ,获得积分10
30秒前
搜集达人应助miyulong采纳,获得10
34秒前
汪汪淬冰冰完成签到,获得积分10
40秒前
huangzsdy完成签到,获得积分10
41秒前
王小裔完成签到 ,获得积分10
44秒前
我爱康康文献完成签到 ,获得积分10
50秒前
SC完成签到 ,获得积分10
52秒前
rangergzz应助汪汪淬冰冰采纳,获得10
53秒前
小雷完成签到,获得积分10
55秒前
56秒前
浪麻麻完成签到 ,获得积分10
58秒前
onevip完成签到,获得积分10
1分钟前
鞑靼完成签到 ,获得积分10
1分钟前
上官聪展完成签到 ,获得积分10
1分钟前
温如军完成签到 ,获得积分10
1分钟前
迷你的夜天完成签到 ,获得积分10
1分钟前
1分钟前
laohu完成签到,获得积分10
1分钟前
黑球发布了新的文献求助10
1分钟前
WYR完成签到 ,获得积分10
1分钟前
roundtree完成签到 ,获得积分0
1分钟前
大大蕾完成签到 ,获得积分10
1分钟前
Johnlian完成签到 ,获得积分10
1分钟前
hhh2018687完成签到,获得积分10
1分钟前
天才罗完成签到 ,获得积分10
1分钟前
俊逸吐司完成签到 ,获得积分10
1分钟前
萨格完成签到 ,获得积分10
1分钟前
meiyang完成签到 ,获得积分10
1分钟前
kento应助蝌蚪采纳,获得200
1分钟前
科研通AI2S应助蝌蚪采纳,获得10
1分钟前
高分求助中
좌파는 어떻게 좌파가 됐나:한국 급진노동운동의 형성과 궤적 2500
Sustainability in Tides Chemistry 1500
TM 5-855-1(Fundamentals of protective design for conventional weapons) 1000
Cognitive linguistics critical concepts in linguistics 800
Threaded Harmony: A Sustainable Approach to Fashion 799
Livre et militantisme : La Cité éditeur 1958-1967 500
氟盐冷却高温堆非能动余热排出性能及安全分析研究 500
热门求助领域 (近24小时)
化学 医学 生物 材料科学 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 基因 遗传学 催化作用 物理化学 免疫学 量子力学 细胞生物学
热门帖子
关注 科研通微信公众号,转发送积分 3052652
求助须知:如何正确求助?哪些是违规求助? 2709874
关于积分的说明 7418267
捐赠科研通 2354453
什么是DOI,文献DOI怎么找? 1246090
科研通“疑难数据库(出版商)”最低求助积分说明 605951
版权声明 595921