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, Stephen Dlouhy, P. M. Conneally, M. E. Hodes

Research output: Contribution to journalArticle

34 Citations (Scopus)

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
Pages (from-to)136-139
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume38
Issue number1
DOIs
StatePublished - 1991

Fingerprint

Pelizaeus-Merzbacher Disease
Proteolipids
Isoleucine
Threonine
Exons
Chromosomes
Magnetic Resonance Imaging
Amino Acids
Mutation
Proteins

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease. / Pratt, V. M.; Trofatter, J. A.; Schinzel, A.; Dlouhy, Stephen; Conneally, P. M.; Hodes, M. E.

In: American Journal of Medical Genetics, Vol. 38, No. 1, 1991, p. 136-139.

Research output: Contribution to journalArticle

Pratt, V. M. ; Trofatter, J. A. ; Schinzel, A. ; Dlouhy, Stephen ; Conneally, P. M. ; Hodes, M. E. / A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease. In: American Journal of Medical Genetics. 1991 ; Vol. 38, No. 1. pp. 136-139.
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