title: Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy.
abstract: We report four novel point mutations in the PMP22 gene with two different phenotypes: mutation p.Ser79Thr arose de novo in a patient with the Dejerine-Sottas neuropathy (DSN) phenotype; and mutations c.78+5 G>A, c.320-1 G>C, and p.Trp140Stop segregated with HNPP in 5 families.Our findings show that point mutations in PMP22 may be more likely in HNPP patients than in CMT1 patients after exclusion of CMT1A/HNPP.
authors: DNA Laboratory, Department of Child Neurology, Charles University Second Medical School and University Hospital Motol, V Úvalu 84, 15006 Prague, Czech Republic. dana.brozkova@seznam.cz
authors: Dana
authors: D
authors: Brožková
authors: Radim
authors: R
authors: Mazanec
authors: Zdeněk
authors: Z
authors: Rychlý
authors: Jana
authors: J
authors: Haberlová
authors: Jiří
authors: J
authors: Böhm
authors: Jan
authors: J
authors: Staněk
authors: Pavlína
authors: P
authors: Plevová
authors: Jana
authors: J
authors: Lisoňová
authors: Jana
authors: J
authors: Sabová
authors: Iva
authors: I
authors: Sakmaryová
authors: Pavel
authors: P
authors: Seeman
mesh_terms: D000328:Adult; D001176:Arthrogryposis / Q000175:diagnosis / Q000235:genetics*; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009185:Myelin Proteins / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D055815:Young Adult
chemical_list: D009185:Myelin Proteins; C073687:PMP22 protein, human