title: A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies.
abstract: Peripheral myelin protein PMP22 deficiency is associated with hereditary neuropathy with liability to pressure palsies (HNPP). Most HNPP cases are caused by a 1.5-megabase deletion in chromosome 17p11.2-12, a region that contains the PMP22 gene, whereas point mutations leading to HNPP are extremely rare. We have identified a family with clinical and electrophysiologic features of HNPP,in which all affected members are heterozygous carriers of a single base insertion in codon 94. This mutation is predicted to alter the reading frame and to result in a delayed termination signal. We conclude that the functional consequences of the frameshift are equivalent to those of the PMP22 deletion allele.
authors.affiliation: Klinik und Poliklinik für Neurologie, Westfähische Wilhelms-Universität, Münster, Germany.
authors.forename: P
authors.initials: P
authors.lastname: Young
authors.forename: H
authors.initials: H
authors.lastname: Wiebusch
authors.forename: F
authors.initials: F
authors.lastname: Stögbauer
authors.forename: B
authors.initials: B
authors.lastname: Ringelstein
authors.forename: G
authors.initials: G
authors.lastname: Assmann
authors.forename: H
authors.initials: H
authors.lastname: Funke
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D002648:Child; D004487:Edema / Q000473:pathology; D005260:Female; D016368:Frameshift Mutation; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009185:Myelin Proteins / Q000235:genetics*; D009186:Myelin Sheath; D010243:Paralysis / Q000235:genetics*; D010523:Peripheral Nervous System Diseases / Q000235:genetics*; D011312:Pressure; D012008:Recurrence
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human