G2Cdb::Allele report

Mutation type
Du

Altered genes (1)

Gene Symbol Species Description
G00001806 PLP1 Homo sapiens proteolipid protein 1

Diseases (1)

Disease Description Nervous effect
D00000155 Pelizaeus-Merzbacher disease Y

Literature (1)

Pubmed - human_disease

  • Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease.

    Inoue K, Kanai M, Tanabe Y, Kubota T, Kashork CD, Wakui K, Fukushima Y, Lupski JR and Shaffer LG

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

    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.

    Funded by: NICHD NIH HHS: P30 HD24064; NINDS NIH HHS: R01 NS27042

    Prenatal diagnosis 2001;21;13;1133-6

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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