early growth mutation in CMT 1-Research from Japan

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Abstract from Journal of Neurological Science. June 2003

15;210(1-2):61-4.

Screening of the early growth response 2 gene in Japanese patients with

Charcot-Marie-Tooth disease type 1.

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

Hayasaka K.

Department of Pediatrics, Yamagata University School of Medicine,

990-9585, Yamagata, Japan

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.