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- W2020657653 abstract "<h2>Abstract</h2> <i>MFN2</i> mutations are a major cause of the axonal form of Charcot–Marie–Tooth disease (CMT2). <i>MFN2</i> encodes mitofusin 2, a mitochondrial fusion protein that is critical for mitochondrial DNA integrity and function. Here we describe CMT2 in a Finnish man and his son, with disease onset in young adulthood, slow progression, and prominent sensory as well as autonomic dysfunction. Molecular analysis revealed in both subjects a previously unreported heterozygous <i>MFN2</i> mutation c.708G>A that is predicted to abolish a donor splice site for exon 7 of the <i>MFN2</i> gene. An incorrectly spliced transcript without exon 7 was detected in RT-PCR analysis. The lack of exon 7 creates frameshift and, consequently, premature termination within exon 8. We demonstrated the presence of the aberrant mRNA suggesting either dominant-negative or toxic gain-of-function effect of the heterozygous c.708G>A mutation. This novel mutation adds to the few previously reported pathogenic <i>MFN2</i> splice site mutations causing CMT2." @default.
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- W2020657653 date "2014-04-01" @default.
- W2020657653 modified "2023-09-28" @default.
- W2020657653 title "Novel mitofusin 2 splice-site mutation causes Charcot–Marie–Tooth disease type 2 with prominent sensory dysfunction" @default.
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- W2020657653 doi "https://doi.org/10.1016/j.nmd.2014.01.007" @default.
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