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Published on: April 4, 2018
A 71-nucleotide deletion in the periaxin gene in an Italian patient with late-onset slowly progressive demyelinating
L Citrigno1, S Zoccolella2, P Lastella3
1Institute for Biomedical Research and Innovation, National Research Council (CNR), Mangone (CS), Italy.
Background:
Charcot-Marie-Tooth disease (CMT) constitutes a group of heterogeneous hereditary motor and sensor neuropathies. Mutations in the periaxin (PRX) gene cause CMT4F with an autosomal recessive early-onset demyelinating neuropathy and are extremely rare in a non-Romani white population.
Methods:
We report on a 66-year-old Italian man presenting with slowly progressive and late-onset demyelinating CMT. The molecular analysis was performed using a custom panel containing 39 genes associated with the CMT phenotype.
Results:
The patient harbored a homozygous PRX 71-nucleotide deletion (c.3286_3356del71, I1096fsX17).
Conclusions:
This is the first report that describes such a genetic mutation in a population of non-Romani origin.
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