PMID- 12736090
OWN - NLM
STAT- MEDLINE
DCOM- 20030721
LR  - 20231213
IS  - 0022-510X (Print)
IS  - 0022-510X (Linking)
VI  - 210
IP  - 1-2
DP  - 2003 Jun 15
TI  - Screening of the early growth response 2 gene in Japanese patients with 
      Charcot-Marie-Tooth disease type 1.
PG  - 61-4
AB  - Charcot-Marie-Tooth disease type 1 (CMT1) is a heterogeneous disorder. Most CMT1 
      patients are associated with a duplication of 17p11.2-p12 (CMT1A duplication), 
      but a small number of patients have mutations of peripheral myelin protein 22 
      (PMP22), myelin protein zero (MPZ), connexin 32 (Cx32) and early growth response 
      2 (EGR2) genes. In our previous study, we identified the responsible mutations in 
      72 of 128 Japanese CMT1 patients as CMT1A duplication in 40, PMP22 mutation in 6, 
      MPZ mutation in 12 and Cx32 mutation in 14 patients. A total of 56 Japanese CMT1 
      patients with no identified mutations were screened for EGR2 mutation by 
      denaturing gradient gel electrophoresis (DGGE). We detected a heterozygous 
      Asp383Tyr mutation of EGR2 in one patient with severe CMT1, Dejerine-Sottas 
      syndrome. EGR2 mutation is rare cause of CMT1 in Japan as in other nations. We 
      were unable to identify the responsible mutation in 55 of 128 CMT1 patients and 
      need further analysis to identify their candidate genes.
FAU - Numakura, Chikahiko
AU  - Numakura C
AD  - Department of Pediatrics, Yamagata University School of Medicine, Yamagata 
      990-9585, Japan.
FAU - Shirahata, Emi
AU  - Shirahata E
FAU - Yamashita, Sumimasa
AU  - Yamashita S
FAU - Kanai, Masayo
AU  - Kanai M
FAU - Kijima, Kazuki
AU  - Kijima K
FAU - Matsuki, Takasumi
AU  - Matsuki T
FAU - Hayasaka, Kiyoshi
AU  - Hayasaka K
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Netherlands
TA  - J Neurol Sci
JT  - Journal of the neurological sciences
JID - 0375403
RN  - 0 (Connexins)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (ERG protein, human)
RN  - 0 (Myelin P0 Protein)
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
RN  - 0 (Trans-Activators)
RN  - 0 (Transcriptional Regulator ERG)
RN  - 30KYC7MIAI (Aspartic Acid)
RN  - 42HK56048U (Tyrosine)
SB  - IM
MH  - Adult
MH  - Aspartic Acid/genetics
MH  - Charcot-Marie-Tooth Disease/*genetics
MH  - Connexins/genetics
MH  - DNA Mutational Analysis
MH  - DNA-Binding Proteins/*genetics
MH  - Female
MH  - Genetic Carrier Screening
MH  - Genetic Testing
MH  - Humans
MH  - Japan/epidemiology
MH  - Male
MH  - Molecular Sequence Data
MH  - Mutation
MH  - Myelin P0 Protein/genetics
MH  - Myelin Proteins/genetics
MH  - Trans-Activators/*genetics
MH  - Transcriptional Regulator ERG
MH  - Tyrosine/genetics
MH  - Gap Junction beta-1 Protein
EDAT- 2003/05/09 05:00
MHDA- 2003/07/23 05:00
CRDT- 2003/05/09 05:00
PHST- 2003/05/09 05:00 [pubmed]
PHST- 2003/07/23 05:00 [medline]
PHST- 2003/05/09 05:00 [entrez]
AID - S0022510X03000285 [pii]
AID - 10.1016/s0022-510x(03)00028-5 [doi]
PST - ppublish
SO  - J Neurol Sci. 2003 Jun 15;210(1-2):61-4. doi: 10.1016/s0022-510x(03)00028-5.