Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the features of small heat shock protein 27 (HSP27) gene mutation in Chinese patients with Charcot-Marie-Tooth disease (CMT).</p><p><b>METHODS</b>DNA samples from 114 CMT probands were screened for mutations in HSP27 gene by polymerase chain reaction and direct sequencing, and haplotype analysis was further carried out on the mutation detected families.</p><p><b>RESULTS</b>One missense mutation C379T was detected in 4 autosomal dominant CMT2 families. Haplotype analysis indicated that the 4 families probably had a common ancestor.</p><p><b>CONCLUSION</b>To the authors' knowledge, this is the first report of HSP27 gene mutation in Chinese patients with CMT, but it may be not common(0.90%). The C379T mutation in HSP27 gene also causes CMT2 except for distal hereditary motor neuropathy, thus providing further evidence that even the same mutation in the same gene may lead to distinct phenotypes.</p>