Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA

Neuroscience

Volumn 132, Issue 3, 2005, Pages 697-701

  Hubner C A ^a   Senning, A ^a   Orth, U ^a   Zerres, K ^b   Urbach, H ^c   Gal, A ^a   Rudnik Schoneborn S ^b  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b RWTH AACHEN UNIVERSITY   (Germany)

^c UNIVERSITY OF BONN   (Germany)

Author keywords

Pelizaeus Merzbacher disease; PLP1 gene; Splice mutation

Indexed keywords

AMINO ACID; MESSENGER RNA; PROTEOLIPID PROTEIN;

ADULT; ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DISEASE COURSE; DISEASE SEVERITY; DNA DETERMINATION; EXON; FIBROBLAST; GENETIC IDENTIFICATION; HUMAN; INFANCY; MALE; MEMBRANE POTENTIAL; NUCLEAR MAGNETIC RESONANCE IMAGING; PELIZAEUS MERZBACHER DISEASE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA ANALYSIS; RNA SPLICING; WILD TYPE;

EID: 17044424595     PISSN: 03064522     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neuroscience.2005.01.042     Document Type: Article

References (21)

1. O. Boespflug-Tanguy, C. Mimault, J. Melki, A. Cavagna, G. Giraud, D. Pham Dinh, B. Dastugue, A. Dautigny PMD Clinical Group Genetic homogeneity of Pelizaeus-Merzbacher disease tight linkage to the proteolipoprotein locus in 16 affected families Am J Hum Genet 55 1994 461 467
2. J. Boulloche, J. Aicardi Pelizaeus-Merzbacher disease clinical and nosological study J Child Neurol 1 1986 233 239
3. F. Cailloux, F. Gauthier-Barichard, C. Mimault, V. Isabelle, V. Courtois, G. Giraud, B. Dastugue, O. Boespflug-Tanguy Genotype-phenotype correlation in inherited brain demyelination defects due to proteolipid protein gene mutations Eur J Hum Genet 8 2000 837 845
4. P.A. Caro, H.G. Marks Magnetic resonance imaging and computed tomography in Pelizaeus-Merzbacher disease Magn Res Imag 8 1990 791 796
5. N.A. Faustino, T.A. Cooper Pre-mRNA splicing and human disease Genes Dev 17 2003 419 437
6. J.K. Fink Hereditary spastic paraplegia D.L. Rimoin J.M. Ryeritz B.R. Korf Emery and Rimoin'sprinciples and practice of medical genetics 4th ed 2002 Churchill Livingstone London 3124 3145
7. J. Garbern, F. Cambi, M. Shy, J. Kamholz Peripheral neuropathy caused by proteolipid protein gene mutations Ann NY Acad Sci 883 1999 351 365
8. A. Gow, R.A. Lazzarini A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease Nat Genet 13 1996 422 428
9. S.M. Gu, U. Orth, A. Veske, H. Enders, K. Klunder, M. Schlosser, W. Engel, E. Schwinger, A. Gal Five novel mutations in the L1CAM gene in families with X linked hydrocephalus J Med Genet 33 1996 103 106
10. G.M. Hobson, A.P. Davis, N.C. Stowell, E.H. Kolodny, E.A. Sistermans, I.F.M. deCoo, V.L. Funanage, H.G. Marks Mutations in noncoding regions of the proteolipid protein in Pelizaeus-Merzbacher disease Neurology 55 2000 1089 1096
11. C.A. Hübner, U. Orth, A. Senning, C. Steglich, A. Kohlschütter, R. Korinthenberg, A. Gal Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease Hum Mutat 25 2005 321 322
12. L.D. Hudson Pelizaeus-Merzbacher disease and spastic paraplegia type 2 two faces of myelin loss from mutations in the same gene J Child Neurol 18 2003 616 624
13. K. Inoue, H. Osaka, K. Imaizumi, A. Nezu, J. Takanashi, J. Arii, K. Murayama, J. Ono, Y. Kikawa, T. Mito, L.G. Shaffer, J.R. Lupski Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease molecular mechanism and phenotypic manifestations Ann Neurol 45 1999 624 632
14. H. Journel, M. Roussey, Y. Gandon, C. Allaire, M. Carsin, B. le Marec Magnetic resonance imaging in Pelizaeus-Merzbacher disease Neuroradiology 29 1987 403 405
15. C. Mimault, G. Giraud, V. Courtois, F. Cailloux, J.Y. Boire, B. Dastugue, O. Boespflug-Tanguy Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not: the Clinical European Network on Brain Dysmyelinating Disease Am J Hum Genet 65 1999 360 369
16. N.L. Nadon, H. Arnheiter, L.D. Hudson A combination of PLP and DM20 transgenes promotes partial myelination in the jimpy mouse J Neurochem 63 1994 822 833
17. A. Schneider, I.R. Griffiths, C. Readhead, K.A. Nave Dominant-negative action of the jimpy mutation in mice complemented with an autosomal transgene for myelin proteolipid protein Proc Natl Acad Sci USA 92 1995 4447 4451
18. R.L. Sidman, M.M. Dickie, S.H. Appel Mutant mice (quaking and jimpy) with deficient myelination in the central nervous system Science 144 1964 309 311
19. E.A. Sistermans, R.F. de Coo, I.J. De Wijs, B.A. Van Oost Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease Neurology 50 1998 1749 1754
20. A. Statz, E. Boltshauser, A. Schinzel, H. Spiess Computed tomography in Pelizaeus-Merzbacher disease Neuroradiology 22 1981 103 105
21. M.Q. Zhang Statistical features of human exons and their flanking regions Hum Mol Genet 7 1998 919 932