G2Cdb::Allele report

Mutation type
?

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

  • A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease.

    Hobson G, Stabley D, Funanage V and Marks H

    Department of Research, Alfred I. DuPont Hospital for Children, Wilmington, DE, USA. ghobson@nemours.org

    Pelizaeus Merzbacher Disease (PMD) is an X-linked recessive dysmyelinating disorder of the central nervous system. Most patients have point mutations in exons of the proteolipid protein (PLP1) gene or duplication of a genomic region that includes the PLP1 gene. We identified a common MspI polymorphism in intron 1 of the PLP1 gene and used it to determine carrier status for PLP1 gene duplication in PMD by using a quantitative PCR approach.

    Human mutation 2001;17;2;152

© 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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