title: Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease.
abstract: Peripheral myelin protein 22 (PMP22), a membrane glycoprotein, plays a significant role in the formation and/or maintenance of compact myelin in the peripheral nervous system. We studied two pedigrees with Dejerine-Sottas disease and identified two novel mutations in the PMP22 gene: one a 2-bp deletional mutation at nucleotide positions 426 and 427 of exon 4 (this is predicted to alter the reading frame at leucine 80 and thus to lead to frame-shifted translation), and the other a guanine to thymine substitution at nucleotide position 636 leading to a cysteine substitution for glycine 150. Both mutations were located in the putative transmembrane domains reported in many cases of Charcot-Marie-Tooth neuropathy, Dejerine-Sottas disease, and hereditary neuropathy with liability to pressure palsies. The results suggest an important role for the putative transmembrane domains of PMP22 in its function.
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Ikegami
authors.forename: H
authors.initials: H
authors.lastname: Ikeda
authors.forename: M
authors.initials: M
authors.lastname: Aoyama
authors.forename: T
authors.initials: T
authors.lastname: Matsuki
authors.forename: T
authors.initials: T
authors.lastname: Imota
authors.forename: Y
authors.initials: Y
authors.lastname: Fukuuchi
authors.forename: T
authors.initials: T
authors.lastname: Amano
authors.forename: I
authors.initials: I
authors.lastname: Toyoshima
authors.forename: Y
authors.initials: Y
authors.lastname: Ishihara
authors.forename: H
authors.initials: H
authors.lastname: Endoh
authors.forename: K
authors.initials: K
authors.lastname: Hayasaka
mesh_terms: D000328:Adult; D002462:Cell Membrane; D004247:DNA / Q000097:blood; D004252:DNA Mutational Analysis; D005260:Female; D018740:Genetic Heterogeneity; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009185:Myelin Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D012333:RNA, Messenger / Q000235:genetics; D015183:Restriction Mapping; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human; D012333:RNA, Messenger; D004247:DNA