Mutation screening of <Emphasis Type="Italic">mitofusin 2</Emphasis> in Charcot-Marie-Tooth disease type 2 |
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Authors: | III" target="_blank">Donald S McCorquodaleIII Gladys Montenegro Ainsley Peguero Nicole Carlson Fiorella Speziani Justin Price Sean W Taylor Michel Melanson Jeffery M Vance Stephan Züchner |
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Institution: | (1) Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Biomedical Research Building, Room 523, LC: M-860, 1501 NW 10th Avenue, Miami, FL 33136, USA;(2) Department of Neurology, Kingston General Hospital, Kingston, ON, Canada |
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Abstract: | Charcot-Marie-Tooth (CMT) disease is among the most common inherited neurological disorders. Mutations in the gene mitofusin 2 (MFN2) cause the axonal subtype CMT2A, which has also been shown to be associated with optic atrophy, clinical signs of first motor
neuron involvement, and early onset stroke. Mutations in MFN2 account for up to 20–30% of all axonal CMT type 2 cases. To further investigate the prevalence of MFN2 mutations and to add to the genotypic spectrum, we sequenced all exons of MFN2 in a cohort of 39 CMT2 patients. We identified seven variants, four of which are novel. One previously described change was co-inherited with a PMP22 duplication,
which itself causes the demyelinating form CMT1A. Another mutation was a novel in frame deletion, which is a rare occurrence
in the genotypic spectrum of MFN2 characterized mainly by missense mutations. Our results confirm a MFN2 mutation rate of ~15–20% in CMT2. |
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