title: Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.
abstract: Dejerine-Sottas syndrome is a hypertrophic, demyelinating neuropathy which appears to demonstrate autosomal recessive inheritance in most pedigrees. Clinical symptoms are similar but more severe than Charcot-Marie-Tooth disease type 1 (CMT1), of which the major subtype, CMT1A, results either from duplication of a 1.5-megabase DNA region in chromosome 17p11.2-p12 containing the myelin gene PMP22, or from PMP22 point mutation. Mutational analysis of the PMP22 coding region in two unrelated Dejerine-Sottas patients identified individual missense point mutations present in the heterozygous state. These findings suggest that Dejerine-Sottas syndrome can result from dominant point mutation alleles of PMP22.
authors.affiliation: Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.
authors.forename: B B
authors.initials: BB
authors.lastname: Roa
authors.forename: P J
authors.initials: PJ
authors.lastname: Dyck
authors.forename: H G
authors.initials: HG
authors.lastname: Marks
authors.forename: P F
authors.initials: PF
authors.lastname: Chance
authors.forename: J R
authors.initials: JR
authors.lastname: Lupski
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D004247:DNA; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009185:Myelin Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D011487:Protein Conformation
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human; D004247:DNA