title: A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.
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.
authors.affiliation: Department of Medical Genetics, Indiana University School of Medicine, Indianapolis 46202-5251.
authors.forename: V M
authors.initials: VM
authors.lastname: Pratt
authors.forename: J A
authors.initials: JA
authors.lastname: Trofatter
authors.forename: A
authors.initials: A
authors.lastname: Schinzel
authors.forename: S R
authors.initials: SR
authors.lastname: Dlouhy
authors.forename: P M
authors.initials: PM
authors.lastname: Conneally
authors.forename: M E
authors.initials: ME
authors.lastname: Hodes
mesh_terms: D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis / Q000235:genetics*; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007532:Isoleucine / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009185:Myelin Proteins / Q000235:genetics*; D018991:Myelin Proteolipid Protein; D010375:Pedigree; D013912:Threonine / Q000235:genetics; D014960:X Chromosome / Q000648:ultrastructure
chemical_list: D009185:Myelin Proteins; D018991:Myelin Proteolipid Protein; D007532:Isoleucine; D013912:Threonine