In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease

Am J Med Genet. 1995 Feb 13;55(4):405-7. doi: 10.1002/ajmg.1320550404.

Abstract

We describe an in-frame deletion of parts of exons 3 and 4 of the proteolipid protein gene (PLP), with all of the intervening sequence, in a 3-generation family with Pelizaeus-Merzbacher disease. The mutation removes 49 amino acids of the PLP.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • DNA / genetics
  • DNA Primers / genetics
  • Diffuse Cerebral Sclerosis of Schilder / genetics*
  • Exons
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Myelin Proteins / genetics*
  • Myelin Proteolipid Protein
  • Pedigree
  • Sequence Deletion*

Substances

  • DNA Primers
  • Myelin Proteins
  • Myelin Proteolipid Protein
  • DNA