title: X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene.
abstract: X-linked dominant Charcot-Marie-Tooth (CMTX) neuropathy has been mapped to the Xq13 region. Subsequently, several mutations that could account for CMTX have been detected in the coding part of the connexin32 (Cx32) gene, which is located within this region. In order to develop more specific diagnostic tools, we have begun a systematic screening of families with dominant CMTX for mutations in the coding region of the Cx32 gene. This report describes a study of ten families and different mutations segregating with the disease were detected in five of them. In addition to the previously reported Arg22stop and Arg215Trp substitutions, three novel mutations are described, including two different missense mutations at codon Arg22 (Arg22Pro and Arg22Gly), and a nonsense mutation at codon Trp133. The identification of new CMTX-causing mutations is a critical step for carrier detection and presymptomatic diagnosis, and should provide essential information on the structure-function relationship of Cx32 in vitro as well as in vivo.
authors.affiliation: Laboratoire de Neurogénétique Moléculaire, URA 1488 CNRS, Université de Paris VI, France.
authors.forename: C
authors.initials: C
authors.lastname: Ressot
authors.forename: P
authors.initials: P
authors.lastname: Latour
authors.forename: F
authors.initials: F
authors.lastname: Blanquet-Grossard
authors.forename: F
authors.initials: F
authors.lastname: Sturtz
authors.forename: S
authors.initials: S
authors.lastname: Duthel
authors.forename: J
authors.initials: J
authors.lastname: Battin
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: Serville
authors.forename: A
authors.initials: A
authors.lastname: Vandenberghe
authors.forename: A
authors.initials: A
authors.lastname: Dautigny
authors.forename: D
authors.initials: D
authors.lastname: Pham-Dinh
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics; D017630:Connexins / Q000737:chemistry / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D014960:X Chromosome / Q000235:genetics*; D000097002:Gap Junction beta-1 Protein
chemical_list: D003062:Codon; D018389:Codon, Nonsense; D017630:Connexins; D004247:DNA; D000097002:Gap Junction beta-1 Protein