[Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease].
OBJECTIVE
To analyze MFN2 gene mutation in Chinese patients Charcot-Marie-Tooth disease (CMT) and to establish a quick and effective diagnostic method.


METHODS
Through denaturing high-performance liquid chromatography (DHPLC) combined with DNA sequencing, MFN2 gene mutation analysis was carried out in 35 Chinese CMT2 patients including 9 probands of CMT2 pedigree and 26 sporadic CMT2 patients.


RESULTS
The investigators found three abnormal sequence variations in MFN2 gene: c.281G-->A, c.395G-->A and c.408A-->T. c.395G-->A (C132T) was a novel causative missense mutation firstly reported while c.281G-->A (R94Q) a hotspot mutation and c.408A-->T (V136V) a single nucleotide polymorphism (SNP). The accuracy and specificity of DHPLC detection reached up to 100%.


CONCLUSIONS
Through DHPLC combined with DNA sequencing, MFN2 mutations are detected in Chinese CMT2 patients. There are two causative missense mutations: c.395G-->A (C132T) and c.281G-->A (R94Q) and one SNP c.408A-->T (V136V). Such a method is an effective and economic diagnostic screening tool of MFN2 gene in CMT patients on a large scale.
Zhang
Ru-xu
RX
Department of Neurology, Third Xiangya Hospital, Central South University, Changsha 410013, China. ruxu.zhang@yahoo.com.cn
Fu
Min
M
Zi
Xiao-hong
XH
Li
Xiao-bo
XB
Zhang
Fu-feng
FF
Xia
Kun
K
Pan
Qian
Q
Hu
Zheng-mao
ZM
Tang
Bei-Sha
BS
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005260:Female; D020558:GTP Phosphohydrolases; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D055815:Young Adult
D017931:DNA Primers; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human