title: A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies.
abstract: Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant, demyelinating peripheral neuropathy. Clinical hallmarks are recurrent painless focal neuropathies mostly preceded by minor trauma or compression at entrapment sites of peripheral nerves. In the majority of the patients, HNPP is caused by a 1.5 Mb deletion on chromosome 17p11.2-p12 containing the peripheral myelin protein 22 (PMP22) gene. Point mutations within this gene are reported in only a few families. We report a novel mutation in the PMP22 gene in a Spanish family with HNPP. The mutation is a 3' splice-site mutation, preceding coding exon 3 (c.179-1 G>C), causing a mild HNPP phenotype.
authors.affiliation: Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium.
authors.forename: J
authors.initials: J
authors.lastname: Meuleman
authors.forename: A
authors.initials: A
authors.lastname: Pou-Serradell
authors.forename: A
authors.initials: A
authors.lastname: Löfgren
authors.forename: C
authors.initials: C
authors.lastname: Ceuterick
authors.forename: J J
authors.initials: JJ
authors.lastname: Martin
authors.forename: V
authors.initials: V
authors.lastname: Timmerman
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: P
authors.initials: P
authors.lastname: De Jonghe
mesh_terms: D000328:Adult; D001483:Base Sequence / Q000235:genetics; D002648:Child; D004274:DNA, Recombinant; D004594:Electrophysiology; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D009185:Myelin Proteins / Q000235:genetics*; D010243:Paralysis / Q000235:genetics*; D010375:Pedigree; D011312:Pressure; D013497:Sural Nerve / Q000473:pathology
chemical_list: D004274:DNA, Recombinant; D009185:Myelin Proteins; C073687:PMP22 protein, human