Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization

To report a family with a history of Pelizaeus–Merzbacher disease (PMD) for which prenatal diagnosis of PLP1 gene duplication status was attempted by the use of custom array comparative genomic hybridization (aCGH).

[1]  Ken Inoue.  PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2 , 2005, Neurogenetics.

[2]  B. Ylstra,et al.  Microarray‐based comparative genomic hybridization and its applications in human genetics , 2004, Clinical genetics.

[3]  L. D. White,et al.  Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders , 2004, Journal of Medical Genetics.

[4]  L. Shaffer,et al.  Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. , 2002, American journal of human genetics.

[5]  Allan Bradley,et al.  Genome-wide detection of chromosomal imbalances in tumors using BAC microarrays , 2002, Nature Biotechnology.

[6]  L. Shaffer,et al.  Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus–Merzbacher disease , 2001, Prenatal diagnosis.

[7]  S. Regis,et al.  Prenatal diagnosis of Pelizaeus‐Merzbacher disease: detection of proteolipid protein gene duplication by quantitative fluorescent multiplex PCR , 2001, Prenatal diagnosis.

[8]  M. Shy,et al.  The molecular pathogenesis of Pelizaeus-Merzbacher disease. , 1999, Archives of neurology.

[9]  J. Boire,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. , 1999, American journal of human genetics.

[10]  L. Shaffer,et al.  Proteolipid protein gene duplications causing Pelizaeus‐Merzbacher disease: Molecular mechanism and phenotypic manifestations , 1999, Annals of neurology.

[11]  K. Woodward,et al.  Prenatal diagnosis by FISH in a family with Pelizaeus–Merzbacher disease caused by duplication of the PLP gene , 1999 .

[12]  D. Vetrie,et al.  Pelizaeus-Merzbacher disease: identification of Xq22 proteolipid-protein duplications and characterization of breakpoints by interphase FISH. , 1998, American journal of human genetics.

[13]  B. V. van Oost,et al.  Duplication of the proteolipid protein gene is the major cause of Pelizaeus‐Merzbacher disease , 1998, Neurology.

[14]  H. Osaka,et al.  A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR. , 1996, American journal of human genetics.

[15]  C. Williams,et al.  Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease. , 1991, American journal of human genetics.

[16]  J. Aicardi,et al.  Pelizaeus-Merzbacher Disease: Clinical and Nosological Study , 1986, Journal of child neurology.