CMT Mutation analysis of small heat shock protein 27 gene in Chinese patients

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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Oct 10;22(5):510-513.

Mutation analysis of small heat shock protein 27 gene in Chinese

patients with Charcot-Marie-Tooth disease

Liu X, Tang B, Zhao G, Xia K, Zhang F, Pan Q, Cai F, Hu Z, Zhang C,

Chen B, Shen L, Zhang R, Jiang H.

Department of Neurology, Xiangya Hospital, Central South University,

Changsha, Hunan, 410008 P. R. China.

OBJECTIVE: To investigate the features of small heat shock protein 27

(HSP27) gene mutation in Chinese patients with Charcot-Marie-Tooth

disease (CMT).

METHODS: 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. RESULTS: One missense mutation C379T was

detected in 4 autosomal dominant CMT2 families. Haplotype analysis

indicated that the 4 families probably had a common ancestor.

CONCLUSION: 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.