CMT Type 2A: Novel mutations in the mitofusin 2 gene (MFN2)

[Guest guest]

BMC Med Genet. 2006 Jun 8;7(1):53

Charcot-Marie-Tooth neuropathy type 2A: Novel mutations in the

mitofusin 2 gene (MFN2).

Engelfried K, Vorgerd M, Hagedorn M, Haas G, Gilles J, Epplen JT,

Meins M.

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.

CONCLUSIONS: We confirmed a significant role of mutations in MFN2 in

the pathogenesis of Charcot-Marie-Tooth disease type 2.