title: A newly identified Thr99fsX110 mutation in the PMP22 gene associated with an atypical phenotype of the hereditary neuropathy with liability to pressure palsies.
abstract: Hereditary neuropathy with liability to pressure palsies (HNPP) is manifested by a spectrum of phenotypes, from the classical HNPP course associated with intermittent nerve palsies to a neuropathy resembling Charcot-Marie-Tooth type 1 (CMT1) disease. The majority of HNPP cases are associated with submicroscopical deletions in the 17p11.2-p12 region containing the PMP22 gene, while PMP22 point mutations are rare, representing about 15% of HNPP cases. In this study, we present a patient manifesting with atypical HNPP phenotype associated with a new Thr99fsX110 mutation in the PMP22 gene. We conclude that all patients who fulfill the electrophysiological criteria of HNPP, even if they lack the typical HNPP phenotype, should be tested for point mutations in the PMP22 gene.
authors.affiliation: Neuromuscular Unit, Mossakowski Medical Research Centre Polish Academy of Sciences, Warszawa, Poland.
authors.forename: Izabela
authors.initials: I
authors.lastname: Moszyńska
authors.forename: Dagmara
authors.initials: D
authors.lastname: Kabzińska
authors.forename: Elena
authors.initials: E
authors.lastname: Sinkiewicz-Darol
authors.forename: Andrzej
authors.initials: A
authors.lastname: Kochański
mesh_terms: D001483:Base Sequence; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D008297:Male; D009185:Myelin Proteins / Q000235:genetics*; D010243:Paralysis / Q000235:genetics; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics; D010641:Phenotype; D017354:Point Mutation
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human