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2A型遗传性运动感觉神经病：线粒体融合蛋白2基因（MFN2）的新突变

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).

作者信息

Engelfried Kathrin, Vorgerd Matthias, Hagedorn Michaela, Haas Gerhard, Gilles Jürgen, Epplen Jörg T, Meins Moritz

机构信息

Department of Human Genetics, Ruhr-University Bochum, Germany.

出版信息

BMC Med Genet. 2006 Jun 8;7:53. doi: 10.1186/1471-2350-7-53.

DOI:10.1186/1471-2350-7-53
PMID:16762064
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1524942/
Abstract

BACKGROUND

Charcot-Marie-Tooth neuropathies are a group of genetically heterogeneous diseases of the peripheral nervous system. Mutations in the MFN2 gene have been reported as the primary cause of Charcot-Marie-Tooth disease type 2A.

METHODS

Patients with the clinical diagnosis of Charcot-Marie-Tooth type 2 were screened using single strand conformation polymorphism (SSCP). All DNA samples showing band shifts in the SSCP analysis were amplified from genomic DNA and cycle sequenced.

RESULTS

We analyzed a total of 73 unrelated patients with a clinical diagnosis of CMT 2. Overall, novel mutations were detected in 6 patients. c.380G>T (G127V), c.1128G>A (M376I), c.1040A>T (E347V), c.1403G>A (R468H), c.2113G>A (V705I), and c.2258_2259insT (L753fs).

CONCLUSION

We confirmed a significant role of mutations in MFN2 in the pathogenesis of Charcot-Marie-Tooth disease type 2.

摘要

背景

夏科-马里-图斯神经病变是一组外周神经系统的基因异质性疾病。据报道，MFN2基因突变是2A型夏科-马里-图斯病的主要病因。

方法

采用单链构象多态性（SSCP）对临床诊断为2型夏科-马里-图斯病的患者进行筛查。所有在SSCP分析中显示条带移位的DNA样本均从基因组DNA中扩增并进行循环测序。

结果

我们共分析了73例临床诊断为CMT 2的无关患者。总体而言，在6例患者中检测到新的突变。分别为c.380G>T（G127V）、c.1128G>A（M376I）、c.1040A>T（E347V）、c.1403G>A（R468H）、c.2113G>A（V705I）和c.2258_2259insT（L753fs）。

结论

我们证实了MFN2基因突变在2型夏科-马里-图斯病发病机制中具有重要作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bda2/1524942/3465d4f72cd3/1471-2350-7-53-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bda2/1524942/27cd449a5e9a/1471-2350-7-53-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bda2/1524942/3465d4f72cd3/1471-2350-7-53-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bda2/1524942/27cd449a5e9a/1471-2350-7-53-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bda2/1524942/3465d4f72cd3/1471-2350-7-53-2.jpg

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