Chinese CMT: Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes

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Yi Chuan. 2010 Aug;32(8):817-23.

Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese

Charcot-Marie-Tooth disease.

[Article in Chinese]

Zhang RX, Guo P, Ren ZJ, Zhao GH, Liu SM, Liu T, Zi XH, Hu ZM, Xia K, Tang BS.

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

Changsha 410013, China

Abstract

The purpose of this study was to understand the mutation features of

lipopolysaccharide-induced tumor necrosis factor-alpha factor (LITAF),

ras-associated protein RAB7 (RAB7), lamin A/C (LMNA) and myotubularin-related

protein 2 (MTMR2) genes in Chinese Charcot-Marie-Tooth disease (CMT) patients.

Mutation analysis of LITAF gene was carried out using PCR combined with DNA

sequencing, and mutation analysis of RAB7 gene by PCR-single strand conformation

polymorphism (PCR-SSCP) combined with DNA sequencing in 33 CMT patients

including 6 probands of autosomal domi-nated CMT families and 27 sporadic

patients; mutation analysis of LMNA and MTMR2 genes was observed using PCR-SSCP

combined with DNA sequencing in 41 CMT patients, including 14 probands of

autosomal recessive CMT fami-lies and 27 sporadic patients.

Two sequence variations c.269G-->A and c.274A-->G were detected in LITAF gene

and two sequence variations c.1243G-->A and c.1910C-->T were detected in LMNA

gene. No sequence variation was found in RAB7 and MTMR2 gene. Variations of

c.269G-->A in LITAF gene and c.1243G-->A, c.1910C-->T in LMNA gene are newly

found SNPs in this study.

Variation of c.274A-->G in LITAF gene is known SNP reported in SNP database.

Mutations in LITAF, RAB7, LMNA, and MTMR2 genes are rare in Chinese CMT

patients.