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.
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.
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.