Citation

Hettiaracchchi D, Weththasigha K, Nethikumara NF, Pathirana S, Dissanayaka WHV (2018) A Novel Mutation in the MFN2 Gene Associated with Hereditary Sensory and Motor Neuropathy with Proximal Predominance (HMSN-P)- A Case Report. J Genet Genome Res 5:039. doi.org/10.23937/2378-3648/1410039

Copyright

© 2018 Hettiaracchchi D, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

CASE REPORT | OPEN ACCESSDOI: 10.23937/2378-3648/1410039

A Novel Mutation in the MFN2 Gene Associated with Hereditary Sensory and Motor Neuropathy with Proximal Predominance (HMSN-P)- A Case Report

D Hettiarachchi*, T K Wetthasinghe, N F Neththikumara, BAPS Pathirana and VHW Dissanayake

Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka

Abstract

Background

Mutations in mitofusin 2 gene have been reported in Charcot-Marie-Tooth type 2 disease also known as Hereditary Sensory and Motor Neuropathy. With its cytogenetic location: 1p36.22.

Case presentation

A 43-year-old female with a family history of neuropathy was experiencing gradual deterioration and proximal weakness of the bilateral lower limb for the past 3 years. Her MRI scan (Brain and whole Spinal) was normal and Electromyography (EMG) report was suggestive of motor & sensory demyelinating polyneuropathy with features of segmental involvement. Her Creatine phosphokinase (CPK) levels were marginally elevated. However, all other investigations were within normal range.

Conclusions

A heterozygous missense variant denoted as c.701T > A at level of cDNA in exon 7 of the MFN2 gene was discovered which resulted in the substitution of Methionine by Lysine at position 234 [p.Met234Lys] of the amino acid sequence which was confirmed by Sanger sequence.