title: Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.
abstract: We identified a de novo mutation in the peripheral myelin protein (PMP22) gene of a patient with Déjérine-Sottas neuropathy. Single-stranded conformation analysis of PCR-amplified DNA fragments showed an additional fragment for exon 1 in the patient, which was absent in the unaffected parents. Sequence analysis showed a de novo point mutation C85-->A that results in an amino acid substitution His12Gln in the first transmembrane domain of PMP22. This provides further evidence that sporadic cases of Déjérine-Sottas neuropathy can be due to dominant single base substitutions.
authors.affiliation: Department of Neurology, Academic Medical Center, Amsterdam, Netherlands.
authors.forename: L J
authors.initials: LJ
authors.lastname: Valentijn
authors.forename: R A
authors.initials: RA
authors.lastname: Ouvrier
authors.forename: N H
authors.initials: NH
authors.lastname: van den Bosch
authors.forename: P A
authors.initials: PA
authors.lastname: Bolhuis
authors.forename: F
authors.initials: F
authors.lastname: Baas
authors.forename: G A
authors.initials: GA
authors.lastname: Nicholson
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D004247:DNA / Q000235:genetics; D005091:Exons; D005260:Female; D005799:Genes, Dominant; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009185:Myelin Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human; D004247:DNA