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

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 77, Issue 4, 2006, Pages 538-540

  Bellone, Emilia ^a   Balestra, P ^a   Ribizzi, G ^b   Schenone, A ^a   Zocchi, G ^b   Di Maria, E ^a   Ajmar, F ^a   Mandich, P ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; DEMYELINATING NEUROPATHY; FEMALE; GENE; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE MUTATION; HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSY; HUMAN; HUMAN TISSUE; MESSENGER RNA SYNTHESIS; MUTATIONAL ANALYSIS; NEUROPATHY; NUCLEOTIDE SEQUENCE; PMP22 GENE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN FUNCTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; STOP CODON;

EID: 33645577579     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2005.075242     Document Type: Article

References (7)

1. Schenone A, Nobbio L, Mandich P, et al. Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies. Neurology 1997;48:445-9.
2. Bort S, Nelis E, Timmerman V, et al. 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. Hum Genet 1997;99:746-54.
3. Meuleman J, Pou-Serradell A, Lofgren A, et al. A novel 3′-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies. Neuromuscul Disord 2001;11:400-3.
4. Lorenzetti D, Pareyson D, Sghirlanzoni A, et al. A 1.5 Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies. Am J Hum Genet 1995;56:91-98.
5. Roa BB, Garcia CA, Suter U, et al. Charcot-Marie-Tooth disease type 1 A. Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 1993;329:96-101.
6. Mandich P, Montera M, Bellone E, et al. Three novel mutations in the Von Hippel-Lindau tumour suppressor gene in Italian patients. Hum Mut 1998;1:S268-70.
7. Sanders CR, Ismail-Beigi F, McEnery MW. Mutations of peripheral myelin protein 22 result in defective trafficking through mechanisms which may be common to diseases involving tetraspan membrane proteins. Biochemistry 2001;40:9453-9.