CMT 2: The GARS gene is rarely mutated in Japanese patients with neuropathy

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J Hum Genet. 2009 Mar 27.

The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth

neuropathy.

Abe A, Hayasaka K.

Department of Pediatrics, Yamagata University School of Medicine, Yamagata,

Japan.

Charcot-Marie-Tooth neuropathy (CMT) is an extremely common but heterogeneous

inherited neuropathy. It has been classified into two forms: demyelinating and

axonal.

The dominant axonal form, CMT2, has been further subdivided through linkage

study and 15 loci and 10 genes have been reported. For the glycyl-tRNA

synthetase (GARS) gene, a CMT2-causing gene, 10 mutations have been reported to

date.

We studied the GARS in 89 Japanese patients with axonal CMT and detected a novel

heterozygous Pro244Leu (c.893C>T) mutation in a patient showing adolescent onset

and early upper limb involvement.

Results of our study indicate that GARS mutation is a rare cause of CMT2 among

Japanese patients.