Ann Clin Neurophysiol.  2019 Jan;21(1):57-60. 10.14253/acn.2019.21.1.57.

A novel p.Leu699Pro mutation in MFN2 gene causes Charcot-Marie-Tooth disease type 2A

• Kang SY
• Ko KH
• Oh JH

• KMID: 2434189
• DOI: http://doi.org/10.14253/acn.2019.21.1.57

Abstract

Axonal Charcot-Marie-Tooth disease (CMT2) has most frequently been associated with mutations in the MFN2 gene. MFN2 encodes mitofusin 2, which is a mitochondrial fusion protein that plays an essential role in mitochondrial function. We report CMT2 in a Korean father and his son that manifested with gait difficulties and progressive atrophy of the lower legs. Molecular analysis revealed a novel heterozygous c.2096T>C (p.Leu699Pro) mutation in the exon 18 of MFN2 in both subjects. We suggest that this novel mutation in MFN2 is probably a pathogenic mutation for CMT2.

Keyword

Charcot-Marie-Tooth disease; MFN2; Mutation; Phenotype

MeSH Terms

Atrophy
Axons
Charcot-Marie-Tooth Disease*
Exons
Fathers
Gait
Humans
Leg
Mitochondrial Dynamics
Phenotype

Figure

• 

  Fig. 1. (A) Molecular genetic analysis obtained from the sequencing of exon 18 of MFN2 show a heterozygous c.2096T>C (p.Leu699Pro) mutation in the proband and his father. (B) Magnetic resonance imaging of the lower extremities in the proband shows widespread fatty degeneration in most muscles of lower leg except posterior tibial muscle.

Reference

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