Korean CMT mutational analysis of genes

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Abstract from Hum Mutat. 2004 Aug;24(2):185-6.

Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean

Charcot-Marie-Tooth neuropathy patients.

Choi BO, Lee MS, Shin SH, Hwang JH, Choi KG, Kim WK, Sunwoo IN, Kim NK,

Chung KW.

Department of Neurology and Ewha Medical Research Center, Ewha Womans

University College of Medicine, Seoul 110-783, Korea.

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.408T>C (p.Val136Ala), 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 European

patients. We described the identified mutations and phenotype-genotype

correlations based on nerve conduction studies.