Pelizaeus-Merzbacher disease: Three novel mutations and implication for locus heterogeneity

Annals of Neurology

Volumn 45, Issue 1, 1999, Pages 59-64

  Osaka, Hitoshi ^a,d   Kawanishi, Chiaki ^a   Inoue, Ken ^a   Onishi, Hideki ^a   Kobayashi, Takuya ^a   Sugiyama, Naoya ^a   Kosaka, Kenji ^a   Nezu, Atsuo ^a   Fujii, Katsunori ^b   Sugita, Katsuo ^b   Kodama, Kazuo ^c   Murayama, Keiko ^c   Murayama, Shigeo ^c   Kanazawa, Ichiro ^c   Kimura, Seiji ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b CHIBA UNIVERSITY   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; DISULFIDE; GUANINE; LEUCINE; PROTEOLIPID PROTEIN; THYMINE; TYROSINE;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISULFIDE BOND; FAMILY STUDY; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; JAPAN; MALE; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL;

ADULT; CHILD; CHILD, PRESCHOOL; DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FAMILY HEALTH; GENETIC HETEROGENEITY; HUMANS; JAPAN; MALE; MYELIN PROTEOLIPID PROTEIN; POINT MUTATION; POLYMORPHISM, GENETIC;

EID: 0032925852     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199901)45:1<59::AID-ART11>3.0.CO;2-3     Document Type: Article

References (53)

1. Seitelberger F. Pelizaeus-Merzbacher disease. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology, vol 10. Amsterdam: North-Holland, 1970:150-202
2. Trofatter JA, Dlouhy SR, DeMyer W, Conneally PM. Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant. Proc Natl Acad Sci USA 1989;86:9427-9430
3. Hodes ME, Pratt VM, Dlouhy SR. Genetics of Pelizaeus-Merzbacher disease. Dev Neurosci 1993;5:383-394
4. Ellis D, Malcolm S. Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease. Nat Genet 1994;6:333-334
5. Inoue K, Osaka H, Sugiyama N, et al. A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR. Am J Hum Genet 1996;58:32-39
6. Boison D, Stoffel W. Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid protein-deficient mice. Proc Natl Acad Sci USA 1994;91: 11709-11713
7. Schneider A, Griffiths IR, Readhead C, Nave K-A. Dominant-negative action of the jimpy mutation in mice complemented with an autosomal transgene for myelin proteolipid protein. Proc Natl Acad Sci USA 1995;92:4447-4451
8. Klugmann M, Schwab MH, Pühlhofer A, et al. Assembly of CNS myelin in the absence of proteolipid protein. Neuron 1997;18:59-70
9. Gow A, Friedrich VL Jr, Lazzarini RA. Intracellular transport and sorting of the oligodendrocyte transmembrane proteolipid protein. J Neurosci Res 1994;37:563-573
10. Gow A, Lazzarini RA. A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease. Nat Genet 1996;13: 422-428
11. Boulloche J, Aicardi J. Pelizaeus-Merzbacher disease: clinical and nosological study. J Child Neurol 1986;1:233-239
12. Trofatter JA, Pratt VM, Dlouhy SR, Hodes ME. AhaII polymorphism in human X-linked proteolipid protein gene (PLP). Nucleic Acids Res 1991;19:6057
13. Mimault C, Cailloux F, Giraud G, et al. Dinucleotide repeat polymorphism in the proteolipid protein (PLP) gene. Hum Genet 1995;96:236
14. Osaka H, Inoue K, Kawanishi C, et al. MvaI polymorphism in the proteolipid protein (PLP) gene. Hum Genet 1995;95:461
15. Kawanishi C, Osaka H, Inoue K, et al. A new restriction-site polymorphism in the human proteolipid protein gene. Clin Genet 1997;51:75
16. Inoue K, Osaka H, Kawanishi C, et al. Mutations in the proteolipid protein gene in two Japanese families with Pelizaeus-Merzbacher disease. Neurology 1997;48:283-285
17. Kawanishi C, Osaka H, Owa K, et al. A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease. Hum Mutat 1997;9:475-476
18. Weimbs T, Stoffel W. Proteolipid protein (PLP) of CNS myelin: positions of free, disulfide-bonded, and fatty acid thioester-linked cysteine residues and implications for the membrane topology of PLP. Biochemistry 1992;31:12289-12296
19. Krawczak M, Reiss J, Cooper DN. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 1992;90: 41-54
20. Pelizaeus F. Ueber eine eigentümliche Form spastischer Lähmung mit Cerebralerscheinungen auf hereditärer Grundlage (multiple Sklerose). Arch Psychiatr 1885;16:698-710
21. Merzbacher L. Eine eigenartige familiäre Erkrankungsform (Aplasia axialis extracorticalis congenita). Z Gesamte Neurol Psychiatr 1910;3:1-138
22. Online Mendelian Inheritance in Man OT. The Human Genome Data Base Project. World Wide Web URL: http:// gdbwww. gdb.org/omin/docs/omimtop.html. 1998
23. Scheffer IE, Baraitser M, Wilson J, et al. Pelizaeus-Merzbacher disease: classical or connatal? Neuropediatrics 1991;22:71-78
24. Saugier-Veber P, Munnich A, Bonneau D, et al. X-linked spastic paraplegia and Pelizeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet 1994;6:257-262
25. Osaka H, Kawanishi C, Inoue K, et al. Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males. Biochem Biophys Res Commun 1995;125:835-841
26. Hodes ME, Blank CA, Pratt VM, et al. Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease. Am J Med Genet 1997;69:121-125
27. Bridge PJ, Wilkins PJ, The role of proteolipid protein gene mutations in Pelizaeus-Merzbacher disease. Am J Hum Genet 1992;52(Suppl):A209 (Abstract)
28. Pratt VM, Naidu S, Dlouhy SR, et al. A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease. Neurology 1995;45:394-395
29. Raskind WH, Williams CA, Hudson LD, Bird TD. Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease. Am J Hum Genet 1991; 49:1355-1360
30. Garbern JY, Combi F, Tang X-M, et al. Proteolipid protein is necessary in peripheral as well as central myelin. Neuron 1997; 19:202-218
31. Sistermans EA, de Wijs IJ, de Coo RFM, et al. A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family. Hum Genet 1996;97:337-339
32. Strautnieks S, Malcolm S. A G to T mutation at a splice site in a case of Pelizaeus-Merzbacher disease. Hum Mol Genet 1993; 2:2191-2192
33. Macklin WB, Gardinier MV, King KD, Kampf K. An AG→GG transition at a splice site in the myelin proteolipid protein gene in jimpy mice results in the removal of an exon. FEBS Lett 1987;223:417-421
34. Nave K-A, Lai C, Bloom FE, Milner RJ. Jimpy mutant mouse: a 74-base deletion in the mRNA for myelin proteolipid protein and evidence for a primary defect in RNA splicing. Proc Natl Acad Sci USA 1986;83:9264-9268
35. Boison D, Büssow H, D'Urso D, et al. Adhesive properties of proteolipid protein are responsible for the compaction of CNS myelin sheaths. J Neurosci 1995;15:5502-5513
36. Pratt VM, Boyadjiev, Green K, et al. Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus. Am J Med Genet 1995;58:70-73
37. Hudson LD, Puckett C, Berndt J, et al. Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. Poe Natl Acad Sci USA 1989;86:8128-8131
38. Gencic S, Abuelo D, Ambler M, Hudson LD. Pelizaeus-Merzbacher disease: an X-linked neurologie disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein. Am J Hum Genet 1989;45:435-442
39. Pratt VM, Boyadjiev S, Dlouhy SR, et al. Pelizaeus-Merzbacher disease in a family of portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene. Am J Med Genet 1995;55:402-404
40. Iwaki A, Muramoto T, Iwaki I, et al. A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family. Hum Mol Genet 1993;2: 19-22
41. Pratt VM, Dlouhy SR, Hodes ME. Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene. Clin Genet 1995;47:99-100
42. Pham-Dinh D, Popot J-L, Boespflug-Tanguy O, et al. Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid. Proc Natl Acad Sci USA 1991;88:7562-7566
43. Nadon NL, Miller S, Draeger K, Salvaggio M. Myelin proteolipid DM 20: evidence for function independent of myelination. Int J Dev Neurosci 1997;15:285-293
44. Gow A, Gragerov A, Gard A, et al. Conservation of topology, but not conformation, of the proteolipid proteins of the myelin sheath. J Neurosci 1997;17:181-189
45. 0, the major structural protein of peripheral nerve system. Neuron 1996;17:435-449
46. 0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 1996;17:451-460
47. Murakami T, Garcia CA, Reiter LT, Lupski JR. Charcot-Marie-Tooth disease and related inherited neuropathies. Medicine 1996;75:233-250
48. Warner LE, Mancias P, Butler IJ, et al. Mutations in the early growth response 2 (ERG2) gene are associated with hereditary myelinopathies. Nat Genet 1998;18:382-384
49. Cassidy SB, Sheehan NC, Farrell DF, et al. Connatal Pelizaeus-Merzbacher disease: an autosomal recessive form. Pediatr Neurol 1987;3:300-305
50. Nezu A, Kimura S, Uehara S, et al. Pelizaeus-Merzbacher-like disease: female case report. Brain Dev 1996;18:114-118
51. Boespflug-Tanguy O, Mimault C, Melki J, et al. Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipid protein locus in 16 affected families. Am J Hum Genet 1994;55:461-467
52. Sistermans EA, de Wijs IJ, de Coo IFM, van Oost BA. Duplication of the proteolipid protein gene (PLP) is a frequent cause of Pelizaeus-Merzbacher disease. Am J Hum Genet 1996; 59(Suppl):A10 (Abstract)
53. Lazzarini A, Schwarz KO, Jiang S, et al. Pelizaeus-Merzbacher-like disease: exclusion of the proteolipid protein locus and documentation of a new locus on Xq. Neurology 1997;49:824-832