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

Am J Med Genet. 1997 Aug 22;71(3):357-60.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Base Sequence
  • Brain / pathology
  • Child, Preschool
  • Codon, Nonsense / genetics
  • DNA / genetics
  • Diffuse Cerebral Sclerosis of Schilder / genetics*
  • Diffuse Cerebral Sclerosis of Schilder / pathology
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Myelin Proteolipid Protein / genetics*
  • Paraplegia / genetics*
  • Paraplegia / pathology
  • Pedigree
  • Point Mutation*
  • Polymorphism, Single-Stranded Conformational
  • Spinal Cord / pathology
  • X Chromosome / genetics*

Substances

  • Codon, Nonsense
  • Myelin Proteolipid Protein
  • DNA