title: An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP.
abstract: Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant, demyelinating neuropathy. Point mutations in the PMP22 gene are a rare cause of HNPP. A novel PMP22 splice site mutation (c.179+1 G-->C) is reported in an HNPP family. By reverse transcriptase-polymerase chain reaction experiments, this mutation was shown to cause the synthesis of an abnormal mRNA in which a premature stop codon probably produces a truncated non-functional protein.
authors.affiliation: Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova, c/o DIMI-Viale Benedetto XV, 6, 16132 Genova, Italy. ebellone@unige.it
authors.forename: E
authors.initials: E
authors.lastname: Bellone
authors.forename: P
authors.initials: P
authors.lastname: Balestra
authors.forename: G
authors.initials: G
authors.lastname: Ribizzi
authors.forename: A
authors.initials: A
authors.lastname: Schenone
authors.forename: G
authors.initials: G
authors.lastname: Zocchi
authors.forename: E
authors.initials: E
authors.lastname: Di Maria
authors.forename: F
authors.initials: F
authors.lastname: Ajmar
authors.forename: P
authors.initials: P
authors.lastname: Mandich
mesh_terms: D000328:Adult; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D020440:Gene Duplication; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D009185:Myelin Proteins / Q000235:genetics*; D009431:Neural Conduction / Q000502:physiology; D017354:Point Mutation / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics*; D013497:Sural Nerve / Q000473:pathology / Q000503:physiopathology*; D020429:Tibial Neuropathy / Q000503:physiopathology
chemical_list: D017931:DNA Primers; D009185:Myelin Proteins; C073687:PMP22 protein, human; D022821:RNA Splice Sites; D012333:RNA, Messenger