Document Detail

Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease.
MedLine Citation:
PMID:  16770524     Owner:  NLM     Status:  MEDLINE    
Periaxin (PRX) plays an important role in the myelination of the peripheral nerve and consequently in the pathogenesis of Charcot-Marie-Tooth disease (CMT). To date, nine nonsense or frameshift PRX mutations have been reported in eight families with CMT. The patients with PRX mutations appeared to show characteristic clinical features with early onset but slow or no progression, a common result of mutations that lead to missing a C-terminal acidic domain. Here, we report a Japanese CMT patient with these characteristic clinical features, who was a compound heterozygote for PRX R1070X and L132FsX153 mutations. We previously reported that three Japanese isolated families also had the homozygous R1070X mutation. To examine the potential founder effect of the R1070X mutation in the Japanese population, we performed haplotype analysis and found that each R1070X allele lay on a different haplotype background in these four families. Therefore, the high frequency of the R1070X mutation among the Japanese population is not likely the consequence of a founder effect, but probably a result of a mutation hot spot.
Tesshu Otagiri; Kenji Sugai; Kazuki Kijima; Hiroko Arai; Yukio Sawaishi; Mitsuteru Shimohata; Kiyoshi Hayasaka
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2006-06-13
Journal Detail:
Title:  Journal of human genetics     Volume:  51     ISSN:  1434-5161     ISO Abbreviation:  J. Hum. Genet.     Publication Date:  2006  
Date Detail:
Created Date:  2006-07-11     Completed Date:  2006-08-18     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9808008     Medline TA:  J Hum Genet     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  625-8     Citation Subset:  IM    
Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan.
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MeSH Terms
Age of Onset
Axons / ultrastructure
Charcot-Marie-Tooth Disease / genetics*
Chromatography, High Pressure Liquid
DNA / blood,  genetics
Genetic Markers
Membrane Proteins / analysis,  genetics*
Microsatellite Repeats
Nerve Fibers, Myelinated / ultrastructure
Nucleic Acid Heteroduplexes
Sequence Analysis, DNA
Reg. No./Substance:
0/Genetic Markers; 0/Membrane Proteins; 0/Nucleic Acid Heteroduplexes; 0/periaxin; 9007-49-2/DNA

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