Type 1C mutations research from U of Genoa

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Research from J Peripher Nerv Syst. 2004 Jun;9(2):112. Related

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Screening for mutations in the lipopolysaccharide-induced tumor necrosis

factor-alpha factor (litaf) gene in italian patients with

charcot-marie-tooth disease.

Bellone E, Balestra P, Di E, Pigullo S, Gulli R, Ajmar F, Mandich

P.

Dipartimento di Neuroscienze, Oftalmologia e Genetica, Sezione di

Genetica Medica, Universita di Genova.

Mutations in LITAF (lipopolysaccharide-induced tumor necrosis

factor-alpha factor), also referred to as SIMPLE, are associated with

one of the dominantly inherited demyelinating forms of

Charcot-Marie-Tooth disease (CMT1C). LITAF is a widely expressed gene,

which maps on chromosome 16p13.1-p12.3 and encodes a 161-amino acid

protein that may play a role in the degradation of proteins critical to

peripheral nerve function. A cohort of 46 unrelated Italian patients

affected with demyelinating peripheral neuropathy with dominant

inheritance was screened for mutations in the LITAF gene. The three

coding exons (2, 3 and 4) and flanking intron nucleotide sequence was

examined by single strand conformation polymorphism (SSCP) and direct

sequencing. All patients were negative for the 17p11.2 duplication and

for mutations in the MPZ, PMP22 and EGR2 genes. SSCP analysis showed

several electrophoretic variants in all exons. Direct sequencing

demonstrated the presence of few single nucleotide substitutions. All of

them were demonstrated to be common polymorphisms: one of them was

non-synonymous, two were synonymous and two were intronic. Based on the

present analysis, LITAF mutations are not a frequent cause of autosomal

dominant demyelinating neuropathies in our population.