A Late-onset and Mild Form of Charcot-Marie-Tooth Disease Type 2 Caused by a Novel Splice-site Mutation Within the Mitofusin-2 Gene

Overview

Journal Acta Myol

Date 2014 May 8

PMID 24803844

Citations 3

Authors

Katarzyna Kotruchow

Dagmara Kabzinska

Irena Hausmanowa-Petrusewicz

Andrzej Kochanski

Affiliations

Soon will be listed here.

Abstract

Charcot-Marie-Tooth type 2A disease (CMT2A) caused by mutations in the Mitofusin 2 gene (Mfn2) has been shown to be an early-onset axonal neuropathy with severe clinical course in the majority of the patients. In this study we present a unique phenotype of CMT2A disease characterized by late-onset polyneuropathy with a very mild clinical course. This rare form of CMT2A disease is caused by a new splice-site (c.311+1G>T) mutation within the MFN2 gene. Due to disturbance of the MFN2 splicing process, this mutation generates a short transcript which encodes a very short fragment of MFN2 protein. The c.311+1G>T mutation within the MFN2 gene results in the late -onset CMT2 disease.

Citing Articles

Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.

Stergachis A, Blue E, Gillentine M, Wang L, Schwarze U, Cortes A Neurol Genet. 2023; 9(5):e200090.

PMID: 37560121 PMC: 10409571. DOI: 10.1212/NXG.0000000000200090.

Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.

Stergachis A, Blue E, Gillentine M, Wang L, Schwarze U, Cortes A bioRxiv. 2023; .

PMID: 36798371 PMC: 9934537. DOI: 10.1101/2023.02.07.526487.

Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease.

Schiavon C, Shadel G, Manor U Front Cell Dev Biol. 2021; 9:624823.

PMID: 33598463 PMC: 7882694. DOI: 10.3389/fcell.2021.624823.

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