title: Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1.
abstract: DNA-based mutation analysis on the connexin 32 gene was performed in 49 families with Charcot-Marie-Tooth disease (CMT) type 1 but without duplication involving the chromosomal region, 17p12-p11.2. Mutations were identified in five of the 49 families, and four of the five mutations were hitherto undescribed: Va137Met, Glu57His, Arg142Glu, Val177Ala. X-linked CMT sometimes lacks evidence for X-linked transmission and cannot be differentiated from CMT type 2, especially in females with mildly decreased nerve conduction velocity. Therefore, molecular analysis is useful for molecular pathology of their disease.
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Ikegami
authors.forename: C
authors.initials: C
authors.lastname: Lin
authors.forename: M
authors.initials: M
authors.lastname: Kato
authors.forename: A
authors.initials: A
authors.lastname: Itoh
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
authors.forename: M
authors.initials: M
authors.lastname: Kurimura
authors.forename: H
authors.initials: H
authors.lastname: Hirayabashi
authors.forename: Y
authors.initials: Y
authors.lastname: Shinohara
authors.forename: A
authors.initials: A
authors.lastname: Mochizuki
authors.forename: K
authors.initials: K
authors.lastname: Hayasaka
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005796:Genes / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein