Mutations in small heat-shock protein 27 and small heat-shock protein 22 genes were found in association with Charcot-Marie-Tooth disease type 2 and distal hereditary motor neuropathy. We searched for mutations in small heat-shock protein 27 gene in an Italian family with peripheral neuropathy and intrafamilial phenotypic variability. A novel heterozygous frame-shift mutation c.476_477delCT was found while point mutations in most genes associated with hereditary neuropathies were ruled out. In the proband, who showed a severe early onset peripheral neuropathy, an independent pathogenetic effect on the peripheral nervous system secondary to the tetanus toxoid injection may be supposed. This is the first truncating nonsense mutation in the small heat-shock protein 27 gene identified so far and the clinical, neurophysiologic, and neuropathological findings are discussed.
Severe Neuropathy After Diphtheria-Tetanus-Pertussis Vaccination in a Child Carrying a Novel Frame-Shift Mutation in the Small Heat-Shock Protein 27 Gene
디프테리아-파상풍-백일해 백신 접종 후 새로운 프레임 시프트 변이를 가진 아동에서 발생한 심각한 신경병증
[Category] 백일해, 파상풍,
[Article Type] journal-article
[Source] pubmed
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