Literature DB >> 16199442

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

E Bellone1, P Balestra, G Ribizzi, A Schenone, G Zocchi, E Di Maria, F Ajmar, P Mandich.   

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.

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Year:  2005        PMID： 16199442      PMCID： PMC2077485          DOI： 10.1136/jnnp.2005.075242

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  7 in total

1.  Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients.

Authors:  P Mandich; M Montera; E Bellone; A Trojani; S Daniele; F Ajmar
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

2.  Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.

Authors:  S Bort; E Nelis; V Timmerman; T Sevilla; A Cruz-Martínez; F Martínez; J M Millán; J Arpa; J J Vílchez; F Prieto; C Van Broeckhoven; F Palau
Journal:  Hum Genet       Date:  1997-06       Impact factor: 4.132

3.  A novel 3'-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies.

Authors:  J Meuleman; A Pou-Serradell; A Löfgren; C Ceuterick; J J Martin; V Timmerman; C Van Broeckhoven; P De Jonghe
Journal:  Neuromuscul Disord       Date:  2001-05       Impact factor: 4.296

Review 4.  Mutations of peripheral myelin protein 22 result in defective trafficking through mechanisms which may be common to diseases involving tetraspan membrane proteins.

Authors:  C R Sanders; F Ismail-Beigi; M W McEnery
Journal:  Biochemistry       Date:  2001-08-14       Impact factor: 3.162

5.  Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene.

Authors:  B B Roa; C A Garcia; U Suter; D A Kulpa; C A Wise; J Mueller; A A Welcher; G J Snipes; E M Shooter; P I Patel; J R Lupski
Journal:  N Engl J Med       Date:  1993-07-08       Impact factor: 91.245

6.  Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies.

Authors:  A Schenone; L Nobbio; P Mandich; E Bellone; M Abbruzzese; F Aymar; G L Mancardi; A J Windebank
Journal:  Neurology       Date:  1997-02       Impact factor: 9.910

7.  A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.

Authors:  D Lorenzetti; D Pareyson; A Sghirlanzoni; B B Roa; N E Abbas; M Pandolfo; S Di Donato; J R Lupski
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025
  7 in total
  4 in total

1.  Identification of Alu elements mediating a partial PMP22 deletion.

Authors:  Verena Matejas; Kathrin Huehne; Christian Thiel; Claudia Sommer; Sibylle Jakubiczka; Bernd Rautenstrauss
Journal:  Neurogenetics       Date:  2006-03-29       Impact factor: 2.660

Review 2.  New evidence for secondary axonal degeneration in demyelinating neuropathies.

Authors:  Kathryn R Moss; Taylor S Bopp; Anna E Johnson; Ahmet Höke
Journal:  Neurosci Lett       Date:  2020-12-24       Impact factor: 3.046

3.  Genetic polymorphisms involved in dopaminergic neurotransmission and risk for Parkinson's disease in a Japanese population.

Authors:  Chikako Kiyohara; Yoshihiro Miyake; Midori Koyanagi; Takahiro Fujimoto; Senji Shirasawa; Keiko Tanaka; Wakaba Fukushima; Satoshi Sasaki; Yoshio Tsuboi; Tatsuo Yamada; Tomoko Oeda; Hiroyuki Shimada; Nobutoshi Kawamura; Nobutaka Sakae; Hidenao Fukuyama; Yoshio Hirota; Masaki Nagai
Journal:  BMC Neurol       Date:  2011-07-25       Impact factor: 2.474

4.  Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene.

Authors:  Carlo Fusco; Carlotta Spagnoli; Grazia Gabriella Salerno; Elena Pavlidis; Daniele Frattini; Francesco Pisani
Journal:  Ital J Pediatr       Date:  2017-10-27       Impact factor: 2.638
  4 in total

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