title: Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene.
abstract: We studied a 33-year-old woman with a negative family history. Both of her parents were examined clinically by nerve conduction velocities (NCVs) and EMG, with normal results. The clinical onset of her condition was at 24 months, with severe weakness and atrophy of her feet and hands, but the proximal muscles were relatively spared. She had bilateral pes cavus, distal weakness and hypesthesia for touch and proprioception, areflexia, claw hands, and severe thoracolumbar kyphoscoliosis. NCVs showed absent motor and sensory responses and EMG revealed diffuse fibrillation potentials. Molecular genetic studies indicated a de novo dominant missense point mutation of exon 3 of the peripheral myelin protein 22 gene at nucleotide 264 that caused the replacement of serine with leucine.
authors.affiliation: Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City 52242, USA.
authors.forename: V V
authors.initials: VV
authors.lastname: Ionasescu
authors.forename: R
authors.initials: R
authors.lastname: Ionasescu
authors.forename: C
authors.initials: C
authors.lastname: Searby
authors.forename: R
authors.initials: R
authors.lastname: Neahring
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009185:Myelin Proteins / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human