title: Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population.
abstract: The present study reports eight additional mutations in the connexin32 gene associated with the X-linked form of Charcot-Marie-Tooth disease. One of these mutations was found twice in two apparently unrelated families. This form of the disease is demyelinating and dominant. However, patient selection for mutational screening should not be limited to these criteria since presentation can either be familial or sporadic, and some patients may be incorrectly classified as suffering from an 'axonal' form. These new mutations complete our previously published work on 12 other mutations and enable meaningful observation in a representative sample of the French population. Mutations are found in all regions of the gene. The most frequently observed mutations were those affecting arginines and mainly involved CpG sequences. Compared with other sources, some of the mutations were present at a higher frequency in the French population.
authors.affiliation: Unité Neurogénétique Moléculaire, Hospices Civils de Lyon, Hôpital de l'Antiquaille, France.
authors.forename: P
authors.initials: P
authors.lastname: Latour
authors.forename: N
authors.initials: N
authors.lastname: Lévy
authors.forename: M
authors.initials: M
authors.lastname: Paret
authors.forename: F
authors.initials: F
authors.lastname: Chapon
authors.forename: G
authors.initials: G
authors.lastname: Chazot
authors.forename: P
authors.initials: P
authors.lastname: Clavelou
authors.forename: P
authors.initials: P
authors.lastname: Couratier
authors.forename: R
authors.initials: R
authors.lastname: Dumas
authors.forename: E
authors.initials: E
authors.lastname: Ollagnon
authors.forename: J
authors.initials: J
authors.lastname: Pouget
authors.forename: A
authors.initials: A
authors.lastname: Setiey
authors.forename: J M
authors.initials: JM
authors.lastname: Vallat
authors.forename: M
authors.initials: M
authors.lastname: Boucherat
authors.forename: M
authors.initials: M
authors.lastname: Fontes
authors.forename: A
authors.initials: A
authors.lastname: Vandenberghe
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D017630:Connexins / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D003711:Demyelinating Diseases / Q000235:genetics; D005192:Family Health; D005260:Female; D005602:France; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008475:Median Nerve / Q000503:physiopathology; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion; D014960:X Chromosome / Q000235:genetics*; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D004247:DNA; D000097002:Gap Junction beta-1 Protein