Genotype and phenotype distribution of 435 patients with Charcot–Marie–Tooth disease from central south China

医学 牙病 表型 基因型 中国 基因型-表型区分 临床表型 疾病 基因 内科学 遗传学 生物 政治学 法学
作者
Yongzhi Xie,Zhiqiang Lin,Lei Liu,Xiaobo Li,Shunxiang Huang,Huadong Zhao,Binghao Wang,Sen Zeng,Wanqian Cao,Lu Li,Xiying Zhu,Siwei Huang,Honglan Yang,Mengli Wang,Zhengmao Hu,Junling Wang,Jifeng Guo,Lu Shen,Hong Jiang,Stephan Züchner,Beisha Tang,Ruxu Zhang
出处
期刊:European Journal of Neurology [Wiley]
卷期号:28 (11): 3774-3783 被引量:24
标识
DOI:10.1111/ene.15024
摘要

The purpose was to provide an overview of genotype and phenotype distribution in a cohort of patients with Charcot-Marie-Tooth disease (CMT) and related disorders from central south China.In all, 435 patients were enrolled and detailed clinical data were collected. Multiplex ligation-dependent probe amplification for PMP22 duplication/deletion and CMT multi-gene panel sequencing were performed. Whole exome sequencing was further applied in the remaining patients who failed to achieve molecular diagnosis.Among the 435 patients, 216 had CMT1, 14 had hereditary neuropathy with pressure palsies (HNPP), 178 had CMT2, 24 had distal hereditary motor neuropathy (dHMN) and three had hereditary sensory and autonomic neuropathy (HSAN). The overall molecular diagnosis rate was 70%: 75.7% in CMT1, 100% in HNPP, 64.6% in CMT2, 41.7% in dHMN and 33.3% in HSAN. The most common four genotypes accounted for 68.9% of molecular diagnosed patients. Relatively frequent causes were missense changes in PMP22 (4.6%) and SH3TC2 (2.3%) in CMT1; and GDAP1 (5.1%), IGHMBP2 (4.5%) and MORC2 (3.9%) in CMT2. Twenty of 160 detected pathogenic variants and the associated phenotypes have not been previously reported. Broad phenotype spectra were observed in six genes, amongst which the pathogenic variants in BAG3 and SPTLC1 were detected in two sporadic patients presenting with the CMT2 phenotype.Our results provided a unique genotypic and phenotypic landscape of patients with CMT and related disorders from central south China, including a relatively high proportion of CMT2 and lower occurrence of PMP22 duplication. The broad phenotype spectra in certain genes have advanced our understanding of CMT.
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
1秒前
Liou发布了新的文献求助30
2秒前
3秒前
锵锵锵完成签到,获得积分10
3秒前
fang发布了新的文献求助10
4秒前
顾矜应助走弓采纳,获得10
4秒前
www发布了新的文献求助10
5秒前
耳东完成签到,获得积分10
5秒前
6秒前
buno应助难过的千山采纳,获得10
7秒前
inkyxia发布了新的文献求助20
11秒前
若雨完成签到,获得积分20
12秒前
13秒前
钟钟完成签到 ,获得积分10
16秒前
18秒前
shuishui发布了新的文献求助30
18秒前
19秒前
今后应助一静齐眉采纳,获得10
21秒前
独特书芹发布了新的文献求助10
22秒前
Lithops发布了新的文献求助10
22秒前
whzhz发布了新的文献求助20
26秒前
SciGPT应助发嗲的高跟鞋采纳,获得10
26秒前
jacob258完成签到 ,获得积分10
26秒前
呜啦啦啦完成签到,获得积分10
26秒前
30秒前
Lithops完成签到,获得积分10
30秒前
minya完成签到,获得积分10
31秒前
CodeCraft应助Q123ba叭采纳,获得10
33秒前
孤狐发布了新的文献求助10
34秒前
66发布了新的文献求助10
35秒前
37秒前
orixero应助子夜的流星采纳,获得10
38秒前
39秒前
39秒前
太陽完成签到 ,获得积分10
39秒前
40秒前
星辰大海应助冷静雅香采纳,获得10
41秒前
畅畅发布了新的文献求助10
42秒前
42秒前
高分求助中
The late Devonian Standard Conodont Zonation 2000
Nickel superalloy market size, share, growth, trends, and forecast 2023-2030 2000
The Lali Section: An Excellent Reference Section for Upper - Devonian in South China 1500
Smart but Scattered: The Revolutionary Executive Skills Approach to Helping Kids Reach Their Potential (第二版) 1000
Very-high-order BVD Schemes Using β-variable THINC Method 830
Mantiden: Faszinierende Lauerjäger Faszinierende Lauerjäger 800
PraxisRatgeber: Mantiden: Faszinierende Lauerjäger 800
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 3248513
求助须知:如何正确求助?哪些是违规求助? 2891903
关于积分的说明 8269128
捐赠科研通 2559920
什么是DOI,文献DOI怎么找? 1388768
科研通“疑难数据库(出版商)”最低求助积分说明 650897
邀请新用户注册赠送积分活动 627798