title: Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease.
abstract: A submicroscopic genomic duplication in Xq22.2 that contains the entire proteolipid protein 1 gene (PLP1) is responsible for the majority of Pelizaeus-Merzbacher disease (PMD) patients. We previously developed an interphase FISH assay to screen for PLP1 duplications in PMD patients using peripheral blood and lymphoblastoid cell lines. This assay has been utilized as a clinical diagnostic test in our cytogenetics laboratory. To expand usage of the interphase FISH assay to prenatal diagnosis of PLP1 duplications, we examined three PMD families with PLP1 duplications utilizing aminiotic fluid samples. In two families the FISH assay revealed fetuses with PLP1 duplications, whereas the other fetus showed a normal copy number of PLP1. Haplotype analyses, as well as an additional FISH analysis using postnatal blood samples, confirmed the results of the prenatal analyses. Our study demonstrates utility of the interphase FISH assay in the prenatal diagnosis of PLP1 duplications in PMD.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: K
authors.initials: K
authors.lastname: Inoue
authors.forename: M
authors.initials: M
authors.lastname: Kanai
authors.forename: Y
authors.initials: Y
authors.lastname: Tanabe
authors.forename: T
authors.initials: T
authors.lastname: Kubota
authors.forename: C D
authors.initials: CD
authors.lastname: Kashork
authors.forename: K
authors.initials: K
authors.lastname: Wakui
authors.forename: Y
authors.initials: Y
authors.lastname: Fukushima
authors.forename: J R
authors.initials: JR
authors.lastname: Lupski
authors.forename: L G
authors.initials: LG
authors.lastname: Shaffer
mesh_terms: D000653:Amniotic Fluid / Q000166:cytology; D002478:Cells, Cultured; D005260:Female; D005312:Fetal Blood / Q000737:chemistry; D020440:Gene Duplication; D006239:Haplotypes; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007399:Interphase; D008297:Male; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D010375:Pedigree; D020371:Pelizaeus-Merzbacher Disease / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014960:X Chromosome
chemical_list: D018991:Myelin Proteolipid Protein