Quantitative multiplex real-time PCR for detection of PLP1 gene duplications in Pelizaeus-Merzbacher patients

Genetic Testing

Volumn 10, Issue 3, 2006, Pages 215-220

  Mikešová, Emilie ^a   Baránková, Lucia ^a   Sakmaryová, Iva ^a   Tatarková, Iva ^a   Seeman, Pavel ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; HUMAN SERUM ALBUMIN;

ARTICLE; CHROMOSOME XQ; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; EXON; FEMALE; FLUORESCENCE ANALYSIS; GENE; GENE DOSAGE; GENE DUPLICATION; GENE IDENTIFICATION; GENE NUMBER; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; HUMAN; HUMAN SERUM ALBUMIN GENE; INTRON; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; PELIZAEUS MERZBACHER DISEASE; PLP1 GENE; QUANTITATIVE ANALYSIS; QUANTITATIVE GENETICS; REAL TIME POLYMERASE CHAIN REACTION; RETROSPECTIVE STUDY; X CHROMOSOME LINKAGE;

FEMALE; GENE DUPLICATION; HUMANS; MALE; MEMBRANE PROTEINS; MYELIN PROTEOLIPID PROTEIN; PELIZAEUS-MERZBACHER DISEASE; PILOT PROJECTS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 33845200302     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2006.10.215     Document Type: Article

References (30)

1. Aarskog NK, Vedeler CA (2000) Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. Hum Genet 107:494-498.
2. ABI PRISM User Bulletin #2: ABI Prism 7700 Sequence Detection System, December 11, 1997 (updated 10/2001) http://www.applied-biosystems.com.
3. Boulloche J, Aicardi J (1986) Pelizaeus-Merzbacher disease: clinical and nosological study. J Child Neurol 1:233-239.
4. Combes P, Bonnet-Dupeyron MN, Gauthier-Barichard F, Schiffmann R, Bertini E, Rodriguez D, Armour JA, Boespflug-Tanguy O, VaursBarriere C (2006) 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 7:31-37.
5. Ellis D, Malcolm S (1994) Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease. Nat Genet 6:333-334.
6. Gao Q, Thurston VC, Vance GH, Dlouhy SR, Hodes ME (2005) Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease. Clin Genet 68:466-467.
7. Garbern J, Cambi F, Shy M, Kamholz J (1999) The molecular pathogenesis of Pelizaeus-Merzbacher disease. Arch Neurol 56:1210-1214.
8. Heid CA, Stevens J, Livak KJ, Williams PM (1996) Real time quantitative PCR. Genome Res 6:986-994.
9. Hübner CA, Orth U, Senning A, Steglich C, Kohlschutter A, Korinthenberg R, Gal A (2005) Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease. Hum Mutat 25:321-322.
10. Hudson LD, Puckett C, Berndt J, Chan J, Gencic S (1989) Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. Proc Natl Acad Sci USA 86:8128-8131.
11. Inoue K (2005) PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 6:1-16.
12. Inoue K, Osaka H, Sugiyama N, Kawanishi C, Onishi H, Nezu A, Kimura K, Yamada Y, Kosaka K (1996) A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR. Am J Hum Genet 59:32-39.
13. Inoue K, Osaka H, Imaizumi K, Nezu A, Takanashi J, Arii J, Murayama K, Ono J, Kikawa Y, Mito T, Shaffer LG, Lupski JR (1999) Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations. Ann Neurol 45:624-632.
14. Lupski JR (1997) Charcot-Marie-Tooth disease: a gene-dosage effect. Hosp Prac (Off Ed) 32(5):83-84,89-91,94-85 passim.
15. Mimault C, Cailloux F, Giraud G, Dastugue B, Boespflug-Tanguy O (1995) Dinucleotide repeat polymorphism in the proteolipoprotein (PLP) gene. Hum Genet 96:236.
16. Mimault C, Giraud G, Courtois V, Cailloux F, Boire JY, Dastugue B, Boespflug-Tanguy O (1999) 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 65:360-369.
17. Nave KA, Lai C, Bloom FE, Milner RJ (1987) Splice site selection in the proteolipid protein (PLP) gene transcript and primary structure of the DM-20 protein of central nervous system myelin. Proc Natl Acad Sci USA 84:5665-5669.
18. Raskind WH, Williams CA, Hudson LD, Bird TD (1991) Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease. Am J Hum Genet 49:1355-1360.
19. Regis S, Grossi S, Lualdi S, Biancheri R, Filocamo M (2005) Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR. Neurogenetics 6:73-78.
20. Seeman P, Paderova K, Benes V Jr, Sistermans EA (2002) A severe connatal form of Pelizaeus Merzbacher disease in a Czech boy caused by a novel mutation (725C>A, Ala242Glu) at the 'jimpy(msd) codon' in the PLP gene. Int J Mol Med 9:125-129.
21. Seeman P, Krsek P, Namestkova K, Malikova M, Belsan T, Proskova M (2003) Detection of the most frequent mutation of the proteolipid protein gene in Czech patients and families with the classic form of PMD. Ceska a Slovenska Neurologie a Neurochirurgie 66:95-104 (article in Czech).
22. Seitelberger F (1970) Pelizaeus-Merzbacher disease. In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology. North Holland, Amsterdam, pp 150-202.
23. Sistermans EA, de Coo RF, De Wijs IJ, Van Oost BA (1998) Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease. Neurology 50:1749-1754.
24. Thiel CT, Kraus C, Rauch A, Ekici AB, Rautenstrauss B, Reis A (2003) A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. Eur J Hum Genet 11:170-178.
25. Vaurs-Barriere C, Bonnet-Dupeyron MN, Combes P, Gauthier-Barichard F, Reveles XT, Schiffmann R, Bertini E, Rodriguez D, Vago P, Armour JAL, Saugier-Veber P, Frebourg T, Leach RJ, Boespflug-Tanguy O (2006) Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies. Ann Hum Genet 70(Pt 1):66-77.
26. Wilke K, Duman B, Horst J (2000) Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR. Hum Mutat 16:431-436
27. Willard HF, Riordan JR (1985) Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders. Science 230:940-942.
28. Wolf NI, Sistermans EA, Cundall M, Hobson GM, Davis-Williams AP, Palmer R, Stubbs P, Davies S, Endziniene M, Wu Y, Chong WI, Malcolm S, Surtees R, Garbern JY, Woodward KJ (2005) Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease. Brain 128:743-751.
29. Woodward K, Kendall E, Vetrie D, Malcolm S (1998) Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH. Am J Hum Genet 63:207-217.
30. Woodward K, Cundall M, Palmer R, Surtees R, Winter RM, Malcolm S (2003) Complex chromosomal rearrangement and associated counseling issues in a family with Pelizaeus-Merzbacher disease. Am J Med Genet A 118:15-24.