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

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. Patients with the clinical diagnosis of Charcot-Marie-Tooth type 2 were scre...

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Bibliographic Details
Published in:BMC medical genetics 2006-06, Vol.7 (1), p.53-53, Article 53
Main Authors: Engelfried, Kathrin, Vorgerd, Matthias, Hagedorn, Michaela, Haas, Gerhard, Gilles, Jürgen, Epplen, Jörg T, Meins, Moritz
Format: Article
Language:English
Subjects:
Adult
Charcot-Marie-Tooth Disease - diagnosis
Charcot-Marie-Tooth Disease - genetics
Female
Frameshift Mutation
Genetic Predisposition to Disease
GTP Phosphohydrolases
Humans
Male
Membrane Proteins - genetics
Middle Aged
Mitochondrial Proteins - genetics
Mutation
Neural Conduction
Point Mutation
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Summary: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. 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. 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). We confirmed a significant role of mutations in MFN2 in the pathogenesis of Charcot-Marie-Tooth disease type 2.
ISSN:1471-2350
1471-2350
DOI:10.1186/1471-2350-7-53