Molecular genetic characterization of demyelinating HMSN should therefore include screening of the LITAF gene if typical signs of a non-homogenous demyelinating neuropathy combined with dominant familial occurrence are evident.
Mutation of the SIMPLE gene (small integral membrane protein of the lysosome/late endosome) is the molecular basis of Charcot-Marie-Tooth disease type 1C (CMT1C), a demyelinating peripheral neuropathy.
Mutations in LITAF may account for a significant proportion of CMT1 patients with previously unknown molecular diagnosis and may define a new mechanism of peripheral nerve perturbation leading to demyelinating neuropathy.