[Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease].
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.


CONCLUSIONS
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.
Liu
Xiao-min
XM
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, PR China.
Tang
Bei-sha
BS
Zhao
Guo-hua
GH
Xia
Kun
K
Zhang
Fu-feng
FF
Pan
Qian
Q
Cai
Fang
F
Hu
Zheng-mao
ZM
Zhang
Cheng
C
Chen
Biao
B
Shen
Lu
L
Zhang
Ru-xu
RX
Jiang
Hong
H
D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D055551:HSP27 Heat-Shock Proteins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree
D055551:HSP27 Heat-Shock Proteins