title: Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease.
abstract: Charcot-Marie-Tooth type 1A disease is an inherited sensorimotor neuropathy that is most often associated with a duplication of chromosome 17p11.2. This region contains the gene of the peripheral myelin protein 22 (PMP22), which is responsible by a gene dosage effect for the Charcot-Marie-Tooth type 1A phenotype with 17p11.2 duplication. We performed a clinical, electrophysiological, and genetic study of a consanguinous Charcot-Marie-Tooth type 1A family with 4 affected siblings, 3 of whom were homozygous for the 17p11.2 duplication, the other a heterozygote. Comparison of phenotypes showed that the severity of the disease was variable among the homozygotes, one of whom was no more severely affected than the heterozygous sibling who was paucisymptomatic. These results suggest that the severity of the disease is not determined solely by the number of copies of the PMP22 gene.
authors.affiliation: Institut National de la Santé et de la Recherche Médicale U289, Hôpital de la Salpêtrière, Paris, France.
authors.forename: E
authors.initials: E
authors.lastname: LeGuern
authors.forename: R
authors.initials: R
authors.lastname: Gouider
authors.forename: D
authors.initials: D
authors.lastname: Mabin
authors.forename: S
authors.initials: S
authors.lastname: Tardieu
authors.forename: N
authors.initials: N
authors.lastname: Birouk
authors.forename: P
authors.initials: P
authors.lastname: Parent
authors.forename: P
authors.initials: P
authors.lastname: Bouche
authors.forename: A
authors.initials: A
authors.lastname: Brice
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D005810:Multigene Family / Q000235:genetics*; D009431:Neural Conduction / Q000502:physiology; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length