title: A novel MPZ gene mutation in exon 2 causing late-onset demyelinating Charcot-Marie-Tooth disease.
abstract: The myelin protein zero gene (MPZ) encodes the major structural protein component of myelin in the peripheral nervous system. More than 120 mutations in MPZ have been detected so far. Clinical phenotypes include CMT1B, CMT2, Dejerine-Sottas syndrome, and congenital hypomyelination neuropathy. We report a new previously unreported mutation in the MPZ gene causing a demyelinating peripheral neuropathy. The initial apparent absence of a family history resulted in the patient being treated for an inflammatory neuropathy with some subjective improvement. We subsequently identified another affected member of the same family with the same genotype leading to the correct diagnosis. Both the affected individuals had an 8-base pair deletion, c.160_167delTCCCGGGT in MPZ exon 2.
authors.affiliation: Department of Neurology, Royal Hallamshire Hospital, Sheffield, United Kingdom.
authors.forename: Govindsinh
authors.initials: G
authors.lastname: Chavada
authors.forename: D Ganesh
authors.initials: DG
authors.lastname: Rao
authors.forename: Joanne
authors.initials: J
authors.lastname: Martindale
authors.forename: Marios
authors.initials: M
authors.lastname: Hadjivassiliou
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics*; D004252:DNA Mutational Analysis; D003711:Demyelinating Diseases / Q000150:complications / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005192:Family Health; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D018993:Myelin P0 Protein / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D018993:Myelin P0 Protein