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Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
Hum Mutat. 2004 Aug; 24(2):185-6.HM

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+Show Affiliations

Department of Neurology and Ewha Medical Research Center, Ewha Womans University College of Medicine, Seoul 110-783, Korea.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15241803

Citation

Choi, Byung-Ok, et al. "Mutational Analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth Neuropathy Patients." Human Mutation, vol. 24, no. 2, 2004, pp. 185-6.
Choi BO, Lee MS, Shin SH, et al. Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. Hum Mutat. 2004;24(2):185-6.
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. (2004). Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. Human Mutation, 24(2), 185-6.
Choi BO, et al. Mutational Analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth Neuropathy Patients. Hum Mutat. 2004;24(2):185-6. PubMed PMID: 15241803.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. AU - Choi,Byung-Ok, AU - Lee,Mi Sun, AU - Shin,Sang Hee, AU - Hwang,Jung Hee, AU - Choi,Kyoung-Gyu, AU - Kim,Won-Ki, AU - Sunwoo,Il Nam, AU - Kim,Nam Keun, AU - Chung,Ki Wha, PY - 2004/7/9/pubmed PY - 2004/10/27/medline PY - 2004/7/9/entrez SP - 185 EP - 6 JF - Human mutation JO - Hum. Mutat. VL - 24 IS - 2 N2 - 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. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/15241803/Mutational_analysis_of_PMP22_MPZ_GJB1_EGR2_and_NEFL_in_Korean_Charcot_Marie_Tooth_neuropathy_patients_ L2 - https://doi.org/10.1002/humu.9261 DB - PRIME DP - Unbound Medicine ER -