[The characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease].
OBJECTIVE
To study the characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease (CMT).


METHODS
Real-time quantitative PCR, PCR-SSCP, and/or direct sequencing were used to analyze the mutation of the pathogenic genes PMP22, MPZ, CX32, EGR2, GDAP1, NEFL, HSP22 and HSP27 in 113 probands of CMT families, 45 of which had family history, from different provinces in China. The whole family members of the subjects with abnormal electrophoretic bands and 50 normal controls underwent the same examination.


RESULTS
Thirty-six cases of PMP22 duplication, 7 cases of CX32 mutation, 1 case of HSP22 mutation, 1 case of HSP27 mutation, 1 case of MPZ mutation, and 1 case of GDAP1 mutation were found in the 113 CMT probands. No point mutation was found in PMP22, EGR2 and NEFL genes.


CONCLUSIONS
Among the Chinese CMT patients 31.9% are caused by PMP22 duplication, 6.2% by CX32, and 0.9% by HSP22, HSP27, MPZ and GDAP1. Point mutations of PMP22, EGR2 and NEFL are rare.
Zhang
Fu-feng
FF
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Tang
Bei-sha
BS
Zhao
Guo-hua
GH
Luo
Wei
W
Xia
Kun
K
Liu
Xiao-min
XM
Xiao
Jian-feng
JF
Zhang
Ru-xu
RX
Chen
Biao
B
Hang
Cheng
C
Pan
Qian
Q
Cai
Fang
F
Guo
Peng
P
D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D055815:Young Adult
D008565:Membrane Proteins