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, Stephen Dlouhy, M. E. Hodes

Research output: Contribution to journalArticle

13 Citations (Scopus)

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

Fingerprint

Pelizaeus-Merzbacher Disease
Proteolipids
Nonsense Codon
Paraplegia
Exons
Terminator Codon
Glutamine
Autopsy
Proteins
Amino Acids
Mutation
Genes

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

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, G. W.; Boesel, C. P.; Dlouhy, Stephen; Hodes, M. E.

In: American Journal of Medical Genetics, Vol. 71, No. 3, 1997, p. 357-360.

Research output: Contribution to journalArticle

Bond, C. ; Si, X. ; Crisp, M. ; Wong, P. ; Paulson, G. W. ; Boesel, C. P. ; Dlouhy, Stephen ; Hodes, M. E. / Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene. In: American Journal of Medical Genetics. 1997 ; Vol. 71, No. 3. pp. 357-360.
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