Pelizaeus-Merzbacher disease as a chromosomal disorder

Congenital Anomalies

Volumn 53, Issue 1, 2013, Pages 3-8

  Yamamoto, Toshiyuki ^a   Shimojima, Keiko ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

Author keywords

Duplication; Fiber fluorescence in situ hybridization; Pelizaeus Merzbacher disease; Proteolipid protein 1 gene; Triplication

Indexed keywords

METHYL CPG BINDING PROTEIN 2; NUCLEOTIDE; PROTEOLIPID PROTEIN 1; UNCLASSIFIED DRUG;

CHROMOSOME DISORDER; CHROMOSOME TRANSLOCATION X; CHROMOSOME XQ; CYTOGENETICS; EXON; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DUPLICATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; REVIEW;

CHROMOSOMES, HUMAN, X; FEMALE; GENE DUPLICATION; GENOTYPE; HUMANS; MALE; MUTATION, MISSENSE; MYELIN PROTEOLIPID PROTEIN; PELIZAEUS-MERZBACHER DISEASE; PHENOTYPE;

EID: 84875017913     PISSN: 09143505     EISSN: 17414520     Source Type: Journal    
DOI: 10.1111/cga.12005     Document Type: Review

References (38)

1. Bond C, Si X, Crisp M etal. 1997. Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene. Am J Med Genet 71:357-360.
2. Cailloux F, Gauthier-Barichard F, Mimault C etal. 2000. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease. Eur J Hum Genet 8:837-845.
3. Carvalho CM, Ramocki MB, Pehlivan D etal. 2011. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet 43:1074-1081.
4. Ellis D, Malcolm S. 1994. Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease. Nat Genet 6:333-334.
5. Fonseca AC, Bonaldi A, Costa SS etal. 2012. PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl. Clin Genet doi: 10.1111/j.1399-0004.2012.01854.x. [Epub ahead of print].
6. Garbern JY. 2007. Pelizaeus-Merzbacher disease: genetic and cellular pathogenesis. Cell Mol Life Sci 64:50-65.
7. Gencic S, Abuelo D, Ambler M etal. 1989. Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein. Am J Hum Genet 45:435-442.
8. Greer JM, Lees MB. 2002. Myelin proteolipid protein-the first 50 years. Int J Biochem Cell Biol 34:211-215.
9. Grossi S, Regis S, Biancheri R etal. 2011. Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations. Orphanet J Rare Dis 6:40.
10. Hodes ME, Blank CA, Pratt VM etal. 1997. 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 69:121-125.
11. Hodes ME, Woodward K, Spinner NB etal. 2000. Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome. Am J Hum Genet 67:14-22.
12. Hubner CA, Orth U, Senning A etal. 2005. Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease. Hum Mutat 25:321-322.
13. Hudson LD, Puckett C, Berndt J etal. 1989. Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. Proc Natl Acad Sci U S A 86:8128-8131.
14. Ida T, Miharu N, Hayashitani M etal. 2003. Functional disomy for Xq22-q23 in a girl with complex rearrangements of chromosomes 3 and X. Am J Med Genet A 120A:557-561.
15. Inoue K. 2005. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 6:1-16.
16. Inoue K, Osaka H, Sugiyama N etal. 1996. A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR. Am J Hum Genet 59:32-39.
17. Inoue K, Osaka H, Thurston VC etal. 2002. Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Am J Hum Genet 71:838-853.
18. Kibe T, Miyahara J, Yokochi K etal. 2009. A novel PLP mutation in a Japanese patient with mild Pelizaeus-Merzbacher disease. Brain Dev 31:248-251.
19. Lee JA, Inoue K, Cheung SW etal. 2006. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum Mol Genet 15:2250-2265.
20. Lee JA, Carvalho CM, Lupski JR. 2007. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 131:1235-1247.
21. Osaka H, Kawanishi C, Inoue K etal. 1995. Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males. Biochem Biophys Res Commun 215:835-841.
22. Osaka H, Koizume S, Aoyama H etal. 2010. Mild phenotype in Pelizaeus-Merzbacher disease caused by a PLP1-specific mutation. Brain Dev 32:703-707.
23. Pelizaeus F. 1885. Ueber eine eigentumliche Form spastischer Lahmung mit Cerebralerscheinungen auf hereditarer Grundlage (multiple Sklerose). Arch Psychiat Nervenkr 16:698-710.
24. Renier WO, Gabreels FJ, Hustinx TW etal. 1981. Connatal Pelizaeus-Merzbacher disease with congenital stridor in two maternal cousins. Acta Neuropathol 54:11-17.
25. Shimojima K, Imai K, Yamamoto T. 2010a. A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy. Am J Med Genet A 152A:2820-2826.
26. Shimojima K, Inoue T, Hoshino A etal. 2010b. Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications. Brain Dev 32:171-179.
27. Shimojima K, Inoue T, Imai Y etal. 2012a. Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication. J Hum Genet 57:580-586.
28. Shimojima K, Mano T, Kashiwagi M etal. 2012b. Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region. Eur J Med Genet 55:400-403.
29. Shimojima K, Okamoto N, Inazu T etal. 2011. Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis. J Hum Genet 56:810-812.
30. Shimojima K, Tanaka K, Yamamoto T. 2009. A de novo intra-chromosomal tandem duplication at 22q13.1q13.31 including the Rubinstein-Taybi region but with no bipolar disorder. Am J Med Genet A 149A:1359-1363.
31. Torisu H, Iwaki A, Takeshita K etal. 2012. Clinical and genetic characterization of a 2-year-old boy with complete PLP1 deletion. Brain Dev 34:852-856.
32. Tyler HR. 1958. Pelizaeus-Merzbacher disease: a clinical study. Arch Neurol Psychiat 80:162-169.
33. Warshawsky I, Chernova OB, Hubner CA etal. 2006. Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease. Clin Chem 52:1267-1275.
34. Wolf NI, Sistermans EA, Cundall M etal. 2005. Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease. Brain 128:743-751.
35. Woodward K, Cundall M, Palmer R etal. 2003. Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease. Am J Med Genet A 118A:15-24.
36. Woodward KJ, Cundall M, Sperle K etal. 2005. Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination. Am J Hum Genet 77:966-987.
37. Yamamoto T, Nanba E. 1999. A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease. Hum Mutat 14:182.
38. Yamamoto T, Nanba E, Zhang H etal. 1998. Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease. Am J Med Genet 75:439-440.