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 and Development

Volumn 32, Issue 3, 2010, Pages 171-179

  Shimojima, Keiko ^a   Inoue, Takehiko ^b   Hoshino, Ai ^c,d   Kakiuchi, Satsuki ^e   Watanabe, Yoshiaki ^f   Sasaki, Masayuki ^g,l   Nishimura, Akira ^g   Takeshita Yanagisawa, Akiko ^a   Tajima, Go ^h   Ozawa, Hiroshi ^c,i   Kubota, Masaya ^c,j   Tohyama, Jun ^k   Oka, Akira ^j,m   Saito, Kayoko ^a   Osawa, Makiko ^a   Yamamoto, Toshiyuki ^a  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b TOTTORI UNIVERSITY   (Japan)

^c Tokyo Metropolitan Hachioji Children's Hospital   (Japan)

^d TOKYO METROPOLITAN NEUROLOGICAL HOSPITAL   (Japan)

^e TOKYO METROPOLITAN BOKUTOH HOSPITAL   (Japan)

^f OKAYAMA UNIVERSITY   (Japan)

^g KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^h HIROSHIMA UNIVERSITY   (Japan)

ⁱ Shimada Ryoiku Center   (Japan)

^j NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^k NISHI NIIGATA CHUO NATIONAL HOSPITAL   (Japan)

^l NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^m UNIVERSITY OF TOKYO   (Japan)

more..

Author keywords

Array based comparative genomic hybridization (aCGH); Fiber FISH; Fluorescence in situ hybridization (FISH); Pelizaeus Merzbacher disease (PMD); Proteolipid protein 1 (PLP1)

Indexed keywords

PROTEOLIPID PROTEIN; PROTEOLIPID PROTEIN 1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME XQ; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; DEMYELINATION; DISEASE SEVERITY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PELIZAEUS MERZBACHER DISEASE; POINT MUTATION; SEQUENCE ANALYSIS;

ADOLESCENT; BRAIN; CHILD; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; DIAGNOSIS, DIFFERENTIAL; GENE EXPRESSION PROFILING; GENES, DUPLICATE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; MYELIN PROTEOLIPID PROTEIN; NYSTAGMUS, PATHOLOGIC; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PELIZAEUS-MERZBACHER DISEASE; YOUNG ADULT;

EID: 77649273260     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2009.02.011     Document Type: Article

References (37)

1. Boulloche J., Aicardi J. Pelizaeus-Merzbacher disease: clinical and nosological study. J Child Neurol 1986, 1:233-239.
2. Koeppen A.H., Robitaille Y. Pelizaeus-Merzbacher disease. J Neuropathol Exp Neurol 2002, 61:747-759.
3. Inoue K. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 2005, 6:1-16.
4. Hudson L.D., Puckett C., Berndt J., Chan J., Gencic S. Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. Proc Natl Acad Sci USA 1989, 86:8128-8131.
5. Gencic S., Abuelo D., Ambler M., Hudson L.D. 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 1989, 45:435-442.
6. Ellis D., Malcolm S. Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease. Nat Genet 1994, 6:333-334.
7. Garbern J.Y. Pelizaeus-Merzbacher disease: genetic and cellular pathogenesis. Cell Mol Life Sci 2007, 64:50-65.
8. Heim P., Claussen M., Hoffmann B., Conzelmann E., Gartner J., Harzer K., et al. Leukodystrophy incidence in Germany. Am J Med Genet 1997, 71:475-478.
9. Cailloux F., Gauthier-Barichard F., Mimault C., Isabelle V., Courtois V., Giraud G., et al. 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 2000, 8:837-845.
10. Sistermans E.A., de Coo R.F., De Wijs I.J., Van Oost B.A. Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease. Neurology 1998, 50:1749-1754.
11. Mimault C., Giraud G., Courtois V., Cailloux F., Boire J.Y., Dastugue B., et al. 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 1999, 65:360-369.
12. Caro P.A., Marks H.G. Magnetic resonance imaging and computed tomography in Pelizaeus-Merzbacher disease. Magn Reson Imaging 1990, 8:791-796.
13. Inoue K., Osaka H., Sugiyama N., Kawanishi C., Onishi H., Nezu A., et al. A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR. Am J Hum Genet 1996, 59:32-39.
14. Woodward K., Kendall E., Vetrie D., Malcolm S. Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH. Am J Hum Genet 1998, 63:207-217.
15. Wolf N.I., Sistermans E.A., Cundall M., Hobson G.M., Davis-Williams A.P., Palmer R., et al. Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease. Brain 2005, 128:743-751.
16. Combes P., Bonnet-Dupeyron M.N., Gauthier-Barichard F., Schiffmann R., Bertini E., Rodriguez D., et al. PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: identification of one partial triplication and two partial deletions of PLP1. Neurogenetics 2006, 7:31-37.
17. Lee J.A., Cheung S.W., Ward P.A., Inoue K., Lupski J.R. Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization. Prenat Diagn 2005, 25:1188-1191.
18. Hubner C.A., Orth U., Senning A., Steglich C., Kohlschutter A., Korinthenberg R., et al. Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease. Hum Mutat 2005, 25:321-322.
19. Bartocci A., Striano P., Mancardi M.M., Fichera M., Castiglia L., Galesi O., et al. Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features. Brain Dev 2008, 30:425-429.
20. Hobson G.M., Davis A.P., Stowell N.C., Kolodny E.H., Sistermans E.A., de Coo I.F., et al. Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease. Neurology 2000, 55:1089-1096.
21. Bejjani B.A., Shaffer L.G. Application of array-based comparative genomic hybridization to clinical diagnostics. J Mol Diagn 2006, 8:528-533.
22. Shaffer L.G., Bejjani B.A. Medical applications of array CGH and the transformation of clinical cytogenetics. Cytogenet Genome Res 2006, 115:303-309.
23. Woodward K., Cundall M., Palmer R., Surtees R., Winter R.M., Malcolm S. Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease. Am J Med Genet A 2003, 118A:15-24.
24. Inoue K., Kanai M., Tanabe Y., Kubota T., Kashork C.D., Wakui K., et al. Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease. Prenat Diagn 2001, 21:1133-1136.
25. Inoue K., Osaka H., Imaizumi K., Nezu A., Takanashi J., Arii J., et al. Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations. Ann Neurol 1999, 45:624-632.
26. Woodward K.J., Cundall M., Sperle K., Sistermans E.A., Ross M., Howell G., et al. Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination. Am J Hum Genet 2005, 77:966-987.
27. Lee J.A., Inoue K., Cheung S.W., Shaw C.A., Stankiewicz P., Lupski J.R. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum Mol Genet 2006, 15:2250-2265.
28. Lee J.A., Carvalho C.M., Lupski J.R. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell 2007, 131:1235-1247.
29. Redon R., Ishikawa S., Fitch K.R., Feuk L., Perry G.H., Andrews T.D., et al. Global variation in copy number in the human genome. Nature 2006, 444:444-454.
30. Inoue K. Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Genomic disorders 2006, 263-269. Humana press, Totowa, NJ. J.R. Lupski, P. Stankiewicz (Eds.).
31. 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.
32. Diehl H.J., Schaich M., Budzinski R.M., Stoffel W. Individual exons encode the integral membrane domains of human myelin proteolipid protein. Proc Natl Acad Sci USA 1986, 83:9807-9811.
33. Yamamoto T., Nanba E., Zhang H., Sasaki M., Komaki H., Takeshita K. Jimpy(msd) mouse mutation and connatal Pelizaeus-Merzbacher disease. Am J Med Genet 1998, 75:439-440.
34. Yamamoto T., Nanba E. A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease. Hum Mutat 1999, 14:182.
35. Regis S., Biancheri R., Bertini E., Burlina A., Lualdi S., Bianco M.G., et al. Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications. Clin Genet 2008, 73:279-287.
36. Uhlenberg B., Schuelke M., Ruschendorf F., Ruf N., Kaindl A.M., Henneke M., et al. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Am J Hum Genet 2004, 75:251-260.
37. Henneke M., Combes P., Diekmann S., Bertini E., Brockmann K., Burlina A.P., et al. GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. Neurology 2008, 70:748-754.