title: New mutations in the X-linked form of Charcot-Marie-Tooth disease.
abstract: Mutations in the gene for connexin 32 are associated with a chromosome X-linked form of Charcot-Marie-Tooth disease. The prevalence of this form is probably underestimated. We screened 12 candidate families and found 7 missense mutations of which 4 are new. These mutations are located in intra- and extramembraneous parts of the protein. Some mutations are probably present with a higher frequency. This study further confirms variation of connexin 32 mutations with scarcity in the second transmembrane domain and, so far, absence in the fourth transmembrane domain and in the carboxy-terminal region.
authors.affiliation: Laboratoire de Neurogénétique Moléculaire, Hôpital de L'Antiquaille, Lyon, France.
authors.forename: P
authors.initials: P
authors.lastname: Latour
authors.forename: A
authors.initials: A
authors.lastname: Fabreguette
authors.forename: C
authors.initials: C
authors.lastname: Ressot
authors.forename: F
authors.initials: F
authors.lastname: Blanquet-Grossard
authors.forename: J C
authors.initials: JC
authors.lastname: Antoine
authors.forename: P
authors.initials: P
authors.lastname: Calvas
authors.forename: F
authors.initials: F
authors.lastname: Chapon
authors.forename: E
authors.initials: E
authors.lastname: Corbillon
authors.forename: E
authors.initials: E
authors.lastname: Ollagnon
authors.forename: F
authors.initials: F
authors.lastname: Sturtz
authors.forename: M
authors.initials: M
authors.lastname: Boucherat
authors.forename: G
authors.initials: G
authors.lastname: Chazot
authors.forename: A
authors.initials: A
authors.lastname: Dautigny
authors.forename: D
authors.initials: D
authors.lastname: Pham-Dinh
authors.forename: A
authors.initials: A
authors.lastname: Vandenberghe
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein