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

C. Bond, X. Si, M. Crisp, P. Wong, G. W. Paulson, C. P. Boesel, S. R. Dlouhy, M. E. Hodes

Research output: Contribution to journalArticle

13 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)357-360
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume71
Issue number3
DOIs
StatePublished - Aug 19 1997

Keywords

  • Nonsense mutation
  • Pelizaeus-Merzbacher disease
  • Proteolipid protein
  • X-linked spastic paraplegia

ASJC Scopus subject areas

  • Genetics(clinical)

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