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 Dlouhy

Research output: Contribution to journalArticle

7 Citations (Scopus)

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
Pages (from-to)516-517
Number of pages2
JournalAmerican Journal of Medical Genetics
Volume75
Issue number5
DOIs
StatePublished - Feb 17 1998

Fingerprint

Proteolipids
Paraplegia
Exons
Mutation
Phenylalanine
Serine
Proteins
Mothers
Protein Domains

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP). / Hodes, M. E.; Hadjisavvas, Andreas; Butler, Ian J.; Aydanian, Antonina; Dlouhy, Stephen.

In: American Journal of Medical Genetics, Vol. 75, No. 5, 17.02.1998, p. 516-517.

Research output: Contribution to journalArticle

Hodes, M. E. ; Hadjisavvas, Andreas ; Butler, Ian J. ; Aydanian, Antonina ; Dlouhy, Stephen. / X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP). In: American Journal of Medical Genetics. 1998 ; Vol. 75, No. 5. pp. 516-517.
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