title: Connatal Pelizaeus-Merzbacher disease: a missense mutation in exon 4 of the proteolipid protein (PLP) gene.
abstract: We investigated the proteolipid protein (PLP) gene in two brothers in a Japanese family with a connatal form of Pelizaeus-Merzbacher disease (PMD). Direct sequencing of the PLP gene revealed an A-to-T transition in exon 4, which led to an Asp-to-Val substitution at residue 202. Their mother was confirmed to be heterozygous for the mutation. The mutation was not found in 78 X-chromosomes of normal Japanese individuals. A correlation between the clinical severity of the disease in the brothers and the Asp202-to-Val mutation in the PLP gene was suggested.
authors.affiliation: Department of Pediatrics, National Otaru Hospital, Hokkaido, Japan. CXQ04341@niftyserve.or.jp
authors.forename: M
authors.initials: M
authors.lastname: Nagao
authors.forename: J
authors.initials: J
authors.lastname: Kadowaki
mesh_terms: D002648:Child; D004268:DNA-Binding Proteins / Q000235:genetics*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D009679:Nuclear Family; D017354:Point Mutation; D012729:Sex Chromosome Aberrations; D014157:Transcription Factors / Q000235:genetics*; D014960:X Chromosome
chemical_list: D004268:DNA-Binding Proteins; C078341:MYT1 protein, human; D014157:Transcription Factors