A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease

V. M. Pratt, J. A. Trofatter, A. Schinzel, S. R. Dlouhy, P. M. Conneally, M. E. Hodes

Research output: Contribution to journalArticle

34 Scopus citations

Abstract

A C-to-T transition in exon 4 of the PLP gene was found in 2 affected males and two obligate carriers in a German family with Pelizaeus-Merzbacher disease. The mutation, which causes loss of an HphI site and changes amino acid 155 from threonine to isoleucine, was absent from 108 normal chromosomes. There are 5 concordances and 1 discrepancy between these results and those obtained by magnetic resonance imaging in this family.

Original languageEnglish (US)
Pages (from-to)136-139
Number of pages4
JournalAmerican journal of medical genetics
Volume38
Issue number1
DOIs
StatePublished - Feb 11 1991

Keywords

  • missense mutation
  • Pelizaeus-Merzbacher disease
  • proteolipid protein
  • X chromosome

ASJC Scopus subject areas

  • Genetics(clinical)

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