title: Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease.
abstract: The existence of recessive transmission of Dejerine-Sottas disease, a severe demyelinating neuropathy of childhood, has been questioned, because only heterozygous mutations of the myelin proteins P0 or PMP22 genes have been identified in virtually all patients with this phenotype. We report on a family with 3 affected children with this phenotype, born to clinically and electrophysiologically unaffected parents. All 3 children carried a previously unknown homozygous missense point mutation (Arg157Trp) of the PMP22 gene. The parents were heterozygous for the same mutation. These findings demonstrate the occurrence of recessive transmission in this setting.
authors.affiliation: Istanbul Medical Faculty, Department of Neurology, Turkey.
authors.forename: Y
authors.initials: Y
authors.lastname: Parman
authors.forename: V
authors.initials: V
authors.lastname: Planté-Bordeneuve
authors.forename: A
authors.initials: A
authors.lastname: Guiochon-Mantel
authors.forename: M
authors.initials: M
authors.lastname: Eraksoy
authors.forename: G
authors.initials: G
authors.lastname: Said
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009185:Myelin Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human