title: Connexin 32 mutation in a Turkish family with X-linked Charcot-Marie-Tooth disease.
abstract: In the present work, we describe a large Turkish family (N=39) with Charcot-Marie-Tooth disease, which is the most commonly inherited peripheral neuropathy. The subjects were from four generations, including six hemizygote patients and nine heterozygote carrier females. Symptoms appeared in late childhood in males (mean age=13.5) but later in carrier females (mean age=33.5). The peripheral nerve conduction was more severely affected in males than females. Genomic DNA was isolated from peripheral white blood cells. Using SSCP technique (single strand conformation polymorphism analysis), abnormal patterns of migration were observed in 15 subjects: 6 of them were hemizygote males and 9 were heterozygote carrier females. We identified a mutation of the Cx32 gene, consisting of a guanine to adenine transition at position 271 (271G-A). The results suggested relations between degenerative processes and position of Cx32 mutations.
authors.affiliation: BlackSea Technical University, Medical School, Department of Medical Biology, Trabzon, Turkey.
authors.forename: Nilufer
authors.initials: N
authors.lastname: Sahin
authors.forename: Meliha
authors.initials: M
authors.lastname: Tan
authors.forename: Ersan
authors.initials: E
authors.lastname: Kalay
authors.forename: Mustafa
authors.initials: M
authors.lastname: Calapoglu
authors.forename: Ahmet
authors.initials: A
authors.lastname: Karaguzel
mesh_terms: D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D012729:Sex Chromosome Aberrations; D012737:Sex Factors; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein