title: Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene.
abstract: Single-strand conformational polymorphism analysis of an affected male with Pelizaeus-Merzbacher disease (PMD) showed a slight change in mobility of amplified exon 5 of the proteolipid protein (PLP) gene. The exon was sequenced and a G-->A transition at codon 216 was found. This mutation eliminates a BstNI restriction site and creates a MaeI restriction site. In 1989, Gencic et al. reported a mutation that destroyed the same BstNI site, but resulted in a substitution at codon 215 [Am J Hum Genet 45:435-442]. The mutation we report here is also present in the patient's mother and her male fetus as determined by polymerase chain reaction analysis of amniocytes.
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis 46202-5251, USA.
authors.forename: V M
authors.initials: VM
authors.lastname: Pratt
authors.forename: S
authors.initials: S
authors.lastname: Boyadjiev
authors.forename: S R
authors.initials: SR
authors.lastname: Dlouhy
authors.forename: K
authors.initials: K
authors.lastname: Silver
authors.forename: V M
authors.initials: VM
authors.lastname: Der Kaloustian
authors.forename: M E
authors.initials: ME
authors.lastname: Hodes
mesh_terms: D002675:Child, Preschool; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005091:Exons; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009185:Myelin Proteins / Q000235:genetics*; D018991:Myelin Proteolipid Protein; D010375:Pedigree; D017354:Point Mutation; D011247:Pregnancy; D014960:X Chromosome
chemical_list: D009185:Myelin Proteins; D018991:Myelin Proteolipid Protein