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KMID : 1189120200170020089
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대한의학유전학회지
2020 Volume.17 No. 2 p.89 ~ p.91
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Axonal Charcot-Marie-Tooth case with a novel heterozygous variant in MFN2 assessed by the MutationDistiller
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Ryu Ho-Sung
Lee Yun-Jeong
Lee Jong-Mok
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Abstract
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Charcot-Marie-Tooth (CMT) disease can be divided mainly into demyelination and axonopathy based on the results of the electrophysiological study. Mitofusin 2, encoded by MFN2 gene, has a crucial role in the fusion of mitochondria, which is known to associate with CMT type 2A as one of the axonal forms. We describe a 44-year-old man with progressive weakness on bilateral legs after noticing foot drop in his early teen. When we examined him at 45 years of age, he presented atrophy on entire legs and with distal muscle weakness on limbs. The nerve conduction study revealed severely decreased amplitude on motor nerve ranging from 0.2 to 4.5 mV, while conduction velocity remained more than 30.4 m/s. The whole-exome sequencing revealed a novel variant c.2228G>T in MFN2 by efficient genetic analysis tool, MutationDistiller. This report will not only expand the mutation spectrum of CMT2A but also introduce a time-saving genetic analysis tool.
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KEYWORD
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Muscular atrophy, Whole exome sequencing, Hereditary sensory and motor neuropathy
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