title: Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72.
abstract: The occurrence of mutations in peripheral myelin protein 22 is one of the genetic mechanisms associated with Dejerine-Sottas neuropathy (DSN). On direct sequencing 2 of such patients we have found the first mutation in the third transmembrane domain associated with this neuropathy and the fourth Ser72Leu. We propose that the Ser72 may be a "hot spot" for DSN and that this should be considered for molecular analysis.
authors.affiliation: Department of Clinical Neurology, Institute of Neurology, London, UK.
authors.forename: W
authors.initials: W
authors.lastname: Marques
authors.forename: P K
authors.initials: PK
authors.lastname: Thomas
authors.forename: M G
authors.initials: MG
authors.lastname: Sweeney
authors.forename: L
authors.initials: L
authors.lastname: Carr
authors.forename: N W
authors.initials: NW
authors.lastname: Wood
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D012694:Serine / Q000235:genetics*
chemical_list: D012694:Serine