title: Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
abstract: We examined CMT1A duplication of 17p11.2-p12, mutations of PMP22, MPZ (P0), GJB1 (Cx32), EGR2 and NEFL genes in 57 Korean families with patients diagnosed as having Charcot-Marie-Tooth (CMT) disease. The CMT1A duplication was present in 53.6% of 28 CMT type 1 patients. In the 42 CMT families without CMT1A duplication, 10 pathogenic mutations were found in 9 families. The 10 mutations were not detected in 105 healthy controls. Seven mutations (c.318delT (p.Ala106fs) in PMP22, c.352G>A (p.Asp118Asn), c.449-1G>T (3'-splice site), c.706A>G (p.Lys236Glu) in MPZ, c.407T>C (p.Val136Ala)[corrected], c.502T>C (p.Cys168Arg) in GJB1, and c.1001T>C (p.Leu334Pro) in NEFL) were determined to be novel. The mutation frequencies of PMP22 and MPZ were similar to those found in several European populations, however, it appeared that mutations in GJB1 are less frequent in East Asian CMT patients than in Eur opean patients. We described the identified mutations and phenotype-genotype correlations based on nerve conduction studies.
authors.affiliation: Department of Neurology and Ewha Medical Research Center, Ewha Womans University College of Medicine, Seoul 110-783, Korea.
authors.forename: Byung-Ok
authors.initials: BO
authors.lastname: Choi
authors.forename: Mi Sun
authors.initials: MS
authors.lastname: Lee
authors.forename: Sang Hee
authors.initials: SH
authors.lastname: Shin
authors.forename: Jung Hee
authors.initials: JH
authors.lastname: Hwang
authors.forename: Kyoung-Gyu
authors.initials: KG
authors.lastname: Choi
authors.forename: Won-Ki
authors.initials: WK
authors.lastname: Kim
authors.forename: Il Nam
authors.initials: IN
authors.lastname: Sunwoo
authors.forename: Nam Keun
authors.initials: NK
authors.lastname: Kim
authors.forename: Ki Wha
authors.initials: KW
authors.lastname: Chung
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D004268:DNA-Binding Proteins / Q000235:genetics*; D051767:Early Growth Response Protein 2; D020440:Gene Duplication; D006801:Humans; D007723:Korea; D018993:Myelin P0 Protein / Q000235:genetics*; D009185:Myelin Proteins / Q000235:genetics*; D016900:Neurofilament Proteins / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D004268:DNA-Binding Proteins; D051767:Early Growth Response Protein 2; D018993:Myelin P0 Protein; D009185:Myelin Proteins; D016900:Neurofilament Proteins; D014157:Transcription Factors; D000097002:Gap Junction beta-1 Protein; C497326:EGR2 protein, human; C073687:PMP22 protein, human; C044882:neurofilament protein L