X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP)

M. E. Hodes, Andreas Hadjisavvas, Ian J. Butler, Antonina Aydanian, Stephen R. Dlouhy

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

A transition C506T was found in exon 4 of the proteolipid protein gene of a boy with spastic paraplegia. This mutation resulted in the substitution of phenylalanine for serine 169, which is in the third transmembrane domain of the proteolipid protein molecule. The mutation apparently arose de novo, as it was absent from his mother.

Original languageEnglish (US)
Pages (from-to)516-517
Number of pages2
JournalAmerican journal of medical genetics
Volume75
Issue number5
DOIs
StatePublished - Feb 17 1998

Keywords

  • Mutation
  • Pelizaeus- Merzbacher disease
  • Proteolipid protein gene
  • Spastic paraplegia
  • X-linked

ASJC Scopus subject areas

  • Genetics(clinical)

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