Molecular diagnosis of Charcot-Marie-Tooth disease in Japan

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In order to reveal the pathophysiological mechanisms of developing Charcot-Marie-Tooth disease (CMT), we examined the genes that had already been recognized as disease-causing genes of CMT. To evaluate the involvement of deletion or duplication of the responsible genes, we established the modified analyzing method of MLPA for the responsible genes. We have reported that a compound heterozygous minor and large deletions of PMP 22 gene was detected in a patient with severe CMT by MLPA. We identified the disease-causing gene mutations in many Japanese CMT patients and revealed the genotype-phenotype relationship. CMT1A, which is most frequently found in Caucasian CMT patients, was less frequent in Japanese population. Furthermore, we could not identify the disease-causing mutation in most Japanese CMT patients. To identify the genetic background of Japanese CMT patients, we should establish sensitive screening methods and search for novel responsible genes.