title: X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans.
abstract: X-linked dominant Charcot-Marie-Tooth disease (CMTX) is an inherited peripheral neuropathy, caused mainly by a mutation of connexin 32 (Cx32) gene. We performed a mutation analysis of Cx32 by direct sequencing of the coding sequence, then identified 23 mutations from 28 Korean CMTX families. Nine mutations were not reported previously: Gly5Ser, Ser26fs, Val37Leu, Thr86Ile, Val152fs, Phe153Cys, Asp178X, Ala197Val, and Ile214Asn. The extracellular 2 (EC2) domain of Cx32 protein was the hot spot mutation domain in 44% of Koreans. Transmembrane domain 4 was rarely affected in Koreans (4%), compared with 14% of Europeans. The EC1 and intracellular domain was not affected in Koreans, although they were frequently affected in Europeans. This study revealed that the frequencies of CMTX with Cx32 mutations are specific to different ethnic groups. The frequency of CMTX (5.3%) caused by Cx32 mutation in Koreans is similar to those in Asians but lower than those in Europeans. This study suggests differences between CMTX patients with Cx32 mutations and ethnic background.
authors.affiliation: Department of Neurology, Ewha Womans University School of Medicine, Mok-dong, Yangchun-Gu, Seoul, South Korea.
authors.forename: Y
authors.initials: Y
authors.lastname: Kim
authors.forename: K-G
authors.initials: KG
authors.lastname: Choi
authors.forename: K D
authors.initials: KD
authors.lastname: Park
authors.forename: K S
authors.initials: KS
authors.lastname: Lee
authors.forename: K W
authors.initials: KW
authors.lastname: Chung
authors.forename: B-O
authors.initials: BO
authors.lastname: Choi
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D002648:Child; D017630:Connexins / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D059645:Mutation Rate; D009431:Neural Conduction; D056910:Republic of Korea; D016415:Sequence Alignment; D055815:Young Adult; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D000097002:Gap Junction beta-1 Protein