New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease

V. M. Pratt, J. A. Trofatter, M. B. Larsen, M. E. Hodes, S. R. Dlouhy

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

A C --> G transversion has been found in exon 3 of the PLP gene of affected males and their mother in a single sibship with Pelizaeus-Merzbacher disease (PMD). The transversion should not result in an amino acid change in the protein but it does result in the loss of a HaeIII restriction endonuclease cleavage site. It is concordant with the disease in this family. One-hundred-ten unrelated X chromosomes are negative for this mutation. No other sequence defect was found in the PLP exons of the affected males. The cause of disease in this family remains unknown, but the association between this rare mutation and PMD is intriguing. The mutation can serve as a marker for following segregation of the PLP gene.

Original languageEnglish (US)
Pages (from-to)642-646
Number of pages5
JournalAmerican journal of medical genetics
Volume43
Issue number3
DOIs
StatePublished - Jun 15 1992

Keywords

  • Pelizaeus-Merzbacher disease
  • proteolipid protein

ASJC Scopus subject areas

  • Genetics(clinical)

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