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

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-T...

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Detalles Bibliográficos
Autores principales: Engelfried, Kathrin, Vorgerd, Matthias, Hagedorn, Michaela, Haas, Gerhard, Gilles, Jürgen, Epplen, Jörg T, Meins, Moritz
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1524942/
https://www.ncbi.nlm.nih.gov/pubmed/16762064
http://dx.doi.org/10.1186/1471-2350-7-53
Descripción
Sumario: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.

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