title: Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E. Mutation in brief no 236. Online.
abstract: Charcot-Marie-Tooth (CMT) disease type CMTX has been linked with mutations in GJB1, a gene on chromosome X coding for a gap junction protein, Connexin 32. We screened the GJB1 gene for mutations by SSCP analysis and sequencing of candidate regions, in five unrelated CMT affected individuals, members of families presenting a mode of transmission and clinical findings compatible with CMTX. Mutations were detected in all five patients. Three not previously reported mutations were identified: C164T, G491A and T359A. Two patients shared the same mutation (C164T) while one had a reported mutation (C43T). Restriction enzyme digestion confirmed the sequencing results, as well as the co-segregation of the mutation with the disease. The same method was used to screen 150 control X chromosomes and the variations were not detected.
authors.affiliation: Dept. of Neurology, University of Athens, Greece.
authors.forename: C
authors.initials: C
authors.lastname: Karadimas
authors.forename: M
authors.initials: M
authors.lastname: Panas
authors.forename: P
authors.initials: P
authors.lastname: Chronopoulou
authors.forename: D
authors.initials: D
authors.lastname: Avramopoulos
authors.forename: D
authors.initials: D
authors.lastname: Vassilopoulos
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D006115:Greece; D006801:Humans; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational; D014960:X Chromosome; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein