当前位置： SCI文献检索 > JOURNAL OF THE NEUROLOGICAL SCIENCES期刊下所有文献 > Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1.

Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1.

Abstract：

: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.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Numakura C,Shirahata E,Yamashita S,Kanai M,Kijima K,Matsuki T,Hayasaka K

doi

10.1016/s0022-510x(03)00028-5

subject

Has Abstract

pub_date

2003-06-15 00:00:00

pages

61-4

issue

1-2

eissn

0022-510X

issn

1878-5883

pii

S0022510X03000285

journal_volume

210

pub_type

杂志文章

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