Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients.
OBJECTIVE
To investigate the genetic loci/mutations among the Chinese Charcot-Marie-Tooth disease type 1 (CMT1), which accounts for approximately 70% of Charcot-Marie-Tooth; and to study the genetic heterogeneity and mutation frequency.


METHODS
CMT1A duplication and mutations at loci of MPZ, Cx32/GJB1, EGR2, and LITAF/SIMPLE were analyzed among 32 clinically diagnosed CMT1 patients of Chinese ancestry.


RESULTS
The CMT1A duplication was detected in 62.5% (20/32) CMT1 patients. This duplication accounts for the major mutation for Chinese CMT1. Among 12 cases that have no CMT1A duplication detected, three point mutations including one (3.1%) in MPZ and two (6.3%) in Cx32 were identified. No mutation was detected in genes PMP22, EGR2 and LITAF among the remaining nine (28.1%) CMT1 patients.


CONCLUSIONS
The mutation frequency for the Chinese CMT1 is similar to that seen in the global ethnic population. Molecular testing of the CMT1A duplication, along with the loci of MPZ and Cx32, may detect the majority of Chinese CMT1 patients.
Song
Shujuan
S
Peking University Center of Medical Genetics, Beijing, China.
Zhang
Yuanzhi
Y
Chen
Biao
B
Zhang
Yuanjin
Y
Wang
Manjie
M
Wang
Yueying
Y
Yan
Ming
M
Zou
Junhua
J
Huang
Yu
Y
Zhong
Nanbert
N
D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000235:genetics*; D002681:China; D017630:Connexins / Q000235:genetics; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D051767:Early Growth Response Protein 2 / Q000235:genetics; D005006:Ethnicity / Q000235:genetics; D005260:Female; D020440:Gene Duplication; D005787:Gene Frequency; D006801:Humans; D008297:Male; D009154:Mutation; D009185:Myelin Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D004247:DNA; D051767:Early Growth Response Protein 2; D009185:Myelin Proteins; D009687:Nuclear Proteins; D011506:Proteins; D014157:Transcription Factors; D000097002:Gap Junction beta-1 Protein; C109561:CDRT1 protein, human; C497326:EGR2 protein, human; C118738:LITAF protein, human; C073687:PMP22 protein, human