Periaxin mutation causes early-onset but slow-progressive CMT

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Research Abstract from J Hum Genet. Jun 12, 2004

Periaxin mutation causes early-onset but slow-progressive

Charcot-Marie-Tooth disease.

Kijima K, Numakura C, Shirahata E, Sawaishi Y, Shimohata M, Igarashi S,

Tanaka T, Hayasaka K.

Department of Pediatrics, Yamagata University School of Medicine, 2-2-2

Iida-nishi, Yamagata 990-9585, Japan.

Periaxin (PRX) plays a significant role in the myelination of the

peripheral nerve. To date, seven non-sense or frameshift PRX mutations

have been reported in six pedigrees with Dejerine-Sottas neuropathy or

severe Charcot-Marie-Tooth neuropathy (CMT). We detected a PRX mutation

in three patients in the screening of 66 Japanese demyelinating CMT

patients who were negative for the gene mutation causing dominant or

X-linked demyelinating CMT. Three unrelated patients were homozygous for

a novel R1070X mutation and presented early-onset but slowly progressive

distal motor and sensory neuropathies. Mutations lacking the

carboxyl-terminal acidic domain may show loss-of-function effects and

cause severe demyelinating CMT.