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Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.

Title
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
Authors
Choi B.O.Lee M.S.Shin S.H.Hwang J.H.Choi K.G.Kim W.K.Sunwoo I.N.Kim N.K.Chung K.W.
Ewha Authors
최경규최병옥
SCOPUS Author ID
최경규scopus
Issue Date
2004
Journal Title
Human mutation
ISSN
1098-1004JCR Link
Citation
vol. 24, no. 2, pp. 185 - 186
Indexed
SCI; SCIE; SCOPUS scopus
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. Copyright 2004 Wiley-Liss, Inc.
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의학전문대학원 > 의학과 > Theses_Master
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