title: Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.
abstract: A European collaboration on Charcot-Marie-Tooth type 1 (CMT1) disease and hereditary neuropathy with liability to pressure palsies (HNPP) was established to estimate the duplication and deletion frequency, respectively, on chromosome 17p11.2 and to make an inventory of mutations in the myelin genes, peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) and connexin 32 (Cx32) located on chromosomes 17p11.2, 1q21-q23 and Xq13.1, respectively. In 70.7% of 819 unrelated CMT1 patients, the 17p11.2 duplication was present. In 84.0% of 156 unrelated HNPP patients, the 17p11.2 deletion was present. In the nonduplicated CMT1 patients, several different mutations were identified in the myelin genes PMP22, MPZ and Cx32.
authors.affiliation: Born-Bunge Foundation, University of Antwerp, Department of Biochemistry, Belgium.
authors.forename: E
authors.initials: E
authors.lastname: Nelis
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: P
authors.initials: P
authors.lastname: De Jonghe
authors.forename: A
authors.initials: A
authors.lastname: Löfgren
authors.forename: A
authors.initials: A
authors.lastname: Vandenberghe
authors.forename: P
authors.initials: P
authors.lastname: Latour
authors.forename: E
authors.initials: E
authors.lastname: Le Guern
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: M L
authors.initials: ML
authors.lastname: Mostacciuolo
authors.forename: F
authors.initials: F
authors.lastname: Schiavon
authors.forename: F
authors.initials: F
authors.lastname: Palau
authors.forename: S
authors.initials: S
authors.lastname: Bort
authors.forename: M
authors.initials: M
authors.lastname: Upadhyaya
authors.forename: M
authors.initials: M
authors.lastname: Rocchi
authors.forename: N
authors.initials: N
authors.lastname: Archidiacono
authors.forename: P
authors.initials: P
authors.lastname: Mandich
authors.forename: E
authors.initials: E
authors.lastname: Bellone
authors.forename: K
authors.initials: K
authors.lastname: Silander
authors.forename: M L
authors.initials: ML
authors.lastname: Savontaus
authors.forename: R
authors.initials: R
authors.lastname: Navon
authors.forename: H
authors.initials: H
authors.lastname: Goldberg-Stern
authors.forename: X
authors.initials: X
authors.lastname: Estivill
authors.forename: V
authors.initials: V
authors.lastname: Volpini
authors.forename: W
authors.initials: W
authors.lastname: Friedl
authors.forename: A
authors.initials: A
authors.lastname: Gal
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000453:epidemiology / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D017630:Connexins / Q000235:genetics*; D005060:Europe; D017353:Gene Deletion; D005787:Gene Frequency; D005820:Genetic Testing; D015417:Hereditary Sensory and Motor Neuropathy / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D005810:Multigene Family; D009154:Mutation; D018993:Myelin P0 Protein / Q000235:genetics; D009185:Myelin Proteins / Q000235:genetics*; D014960:X Chromosome; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D018993:Myelin P0 Protein; D009185:Myelin Proteins; D000097002:Gap Junction beta-1 Protein; C073687:PMP22 protein, human