G2Cdb::Allele report

Mutation type
D

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 - other

  • In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.

    Kleindorfer DO, Dlouhy SR, Pratt VM, Jones MC, Trofatter JA and Hodes ME

    Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251, USA.

    We describe an in-frame deletion of parts of exons 3 and 4 of the proteolipid protein gene (PLP), with all of the intervening sequence, in a 3-generation family with Pelizaeus-Merzbacher disease. The mutation removes 49 amino acids of the PLP.

    American journal of medical genetics 1995;55;4;405-7

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EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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