Mutation analysis of MFN2 gene in Chinese patients with CMT

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Zhonghua Yi Xue Za Zhi. 2009 Dec 22;89(47):3324-7.

Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth

disease

Zhang RX, Fu M, Zi XH, Li XB, Zhang FF, Xia K, Pan Q, Hu ZM, Tang BS.

Department of Neurology, Third Xiangya Hospital, Central South University,

Changsha 410013, China.

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%.

CONCLUSION: 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.