HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER		Author Keyword(s) Vol Page [Advanced]

This Article Full Text Full Text (PDF) All Versions of this Article: jnnp.2005.075242v1 77/4/538    most recent Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders Download to citation manager Request Permissions Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Bellone, E Articles by Mandich, P Search for Related Content PubMed PubMed Citation Articles by Bellone, E Articles by Mandich, P

An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP

¹ Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova, Genova, Italy
² Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova
³ Division of Neurology, San Martino Hospital, Genova
⁴ Department of Neurosciences, Ophthalmology and Genetics, Section of Neurology, University of Genova
⁵ Division of Neurology, San Martino Hospital, Genova
⁶ Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova
⁷ Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova
⁸ Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova

Correspondence to:
Correspondence to:
Dr Emilia Bellone
Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova, c/o DIMI – Viale Benedetto XV, 6, 16132 Genova, Italy; ebellone{at}unige.it

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 GC) 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.

Abbreviations: 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

Keywords: HNPP; splice site mutation; PMP22