Mutation analysis of the M6b gene in patients with Pelizaeus-Merzbacher-like syndrome

Am J Med Genet A. 2004 Jul 15;128A(2):156-8. doi: 10.1002/ajmg.a.30068.


"Pelizaeus-Merzbacher-like syndrome" is an undetermined leukodystrophy disorder of diffuse hypomyelination. The patients' clinical phenotype is indistinguishable from classical Pelizaeus-Merzbacher disease (PMD), but the patients lack PLP1 gene duplications or mutations. They represent about 20% of all cases with a clinical PMD phenotype. The M6b gene has been localized to Xp22.2. The encoded M6B protein is a member of a novel proteolipid family that also includes other major brain myelin components like the proteolipid protein (PLP). Recent cotransfection experiments suggest a protein-protein interaction of M6B and mutant PLP1 that may contribute to oligodendrocyte dysfunction in PMD. Therefore, M6b has been considered a good candidate gene for Pelizaeus-Merzbacher-like syndrome. However, our molecular analyses in eight thoroughly characterized patients make it unlikely that mutations in this gene are involved in this subgroup of human hypomyelination disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • DNA Mutational Analysis*
  • Demyelinating Diseases / genetics*
  • Demyelinating Diseases / pathology*
  • Female
  • Humans
  • Infant
  • Lipids / chemistry
  • Male
  • Membrane Glycoproteins / genetics*
  • Models, Genetic
  • Mutation
  • Myelin Proteolipid Protein / chemistry
  • Nerve Tissue Proteins / genetics*
  • Oligodendroglia / metabolism
  • Oligonucleotides / chemistry
  • Pelizaeus-Merzbacher Disease / diagnosis
  • Pelizaeus-Merzbacher Disease / genetics*
  • Phenotype
  • Protein Binding
  • Sphingolipidoses / pathology
  • Syndrome
  • Transfection


  • GPM6B protein, human
  • Lipids
  • Membrane Glycoproteins
  • Myelin Proteolipid Protein
  • Nerve Tissue Proteins
  • Oligonucleotides