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Pelizaeus-Merzbacher disease: a frameshift deletion/insertion event in the myelin proteolipid gene

D Pham-Dinh1, O Boespflug-Tanguy, C Mimault

  • 1Equipe ATIPE, URA 1488 CNRS, Paris, France.

Human Molecular Genetics
|April 1, 1993
PubMed

Insights

Pelizaeus-Merzbacher disease (PMD), a central nervous system disorder, is linked to mutations in the proteolipid (PLP) gene. Researchers found a novel frameshift mutation in the PLP gene causing truncated proteins in a PMD family.

Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Pelizaeus-Merzbacher disease (PMD) is an X-linked central nervous system (CNS) dysmyelinating disorder.
  • Mutations in the proteolipid (PLP) gene, encoding PLP and DM20 proteins, are associated with PMD and animal models.

Purpose of the Study:

  • To investigate the genetic cause of PMD in a two-generation family.
  • To identify mutations in the PLP gene responsible for the disease phenotype.

Main Methods:

  • Genetic analysis of a PMD-affected family.
  • Identification of mutations in the PLP gene through sequencing.

Main Results:

  • An insertion/deletion event was identified in exon IV of the PLP gene.
  • This mutation predicts truncated PLP and DM20 proteins with altered carboxyl termini.
  • This represents the first reported frameshift mutation in the PLP gene in PMD.

Conclusions:

  • The identified frameshift mutation in the PLP gene is the cause of PMD in this family.
  • This finding expands the spectrum of known PLP gene mutations associated with PMD.
  • Further research into the functional consequences of truncated PLP/DM20 proteins is warranted.

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