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

  • Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene.

    Bond C, Si X, Crisp M, Wong P, Paulson GW, Boesel CP, Dlouhy SR and Hodes ME

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

    We report on a C-to-T transition in exon 6 of the PLP gene in a male with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia. The transition changes a glutamine at amino acid residue 233 to a termination codon. This premature stop codon probably results in a truncated protein that is not functional. Six other relatives were analyzed for the mutation and two female carriers were identified. Autopsy data on one male are presented.

    Funded by: NICHD NIH HHS: 2T32HD07373

    American journal of medical genetics 1997;71;3;357-60

© 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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