An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP. Issue 4 (30th September 2005)

• Record Type: Journal Article
• Authors: Bellone, E; Balestra, P; Ribizzi, G; Schenone, A; Zocchi, G; Di Maria, E; Ajmar, F; Mandich, P
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 77:Issue 4(2006)
• Page Start: 538
• Page End: 540
• Publication Date: 2005-09-30
• Subjects: CMT1A, Charcot-Marie-Tooth disease type 1A -- HNPP, hereditary neuropathy with liability to pressure palsies -- PFGE, pulsed field gel electrophoresis -- SSCP, single strand conformation polymorphism; HNPP -- splice site mutation -- PMP22; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.2005.075242
• Languages: English
• ISSNs: 0022-3050

Abstract

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.