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Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot‐Marie‐Tooth neuropathy patients
Author(s) -
Choi ByungOk,
Lee Mi Sun,
Shin Sang Hee,
Hwang Jung Hee,
Choi KyoungGyu,
Kim WonKi,
Sunwoo Il Nam,
Kim Nam Keun,
Chung Ki Wha
Publication year - 2004
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9261
Subject(s) - biology , tooth disease , genetics , gene
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 Eur opean patients. We described the identified mutations and phenotype‐genotype correlations based on nerve conduction studies. © 2004 Wiley‐Liss, Inc.