Wang Y W, Han W T, Jiang M, Lu C X, Li X F, Zhang X, Li J X
Key Laboratory of Reproductive Health of Liaoning Province, Shenyang, Huanggu, China.
Genet Mol Res. 2012 May 18;11(2):1454-9. doi: 10.4238/2012.May.18.5.
Charcot-Marie-Tooth (CMT) is a group of clinically and genetically heterogeneous inherited neuromuscular disorders. At present, more than 30 loci have been reported to be associated with CMT disease; point mutations in the mitofusin 2 (MFN2) gene is one of the most common causes. We studied a Chinese family with CMT disease in which the phenotype of affected individuals varied, and the weakness condition of the distal legs in males, except the proband, was less severe than in females in this family. Linkage analysis and PCR sequencing revealed a missense mutation (NM_014874.3:c.1066 A>G) in the MFN2 gene, resulting in an animo acid substitution of threonine to alanine in condon 356 (Thr356Ala). This is a novel phenotype and mutation for CMT family.
夏科-马里-图斯病（CMT）是一组临床和遗传异质性的遗传性神经肌肉疾病。目前，已报道30多个基因座与CMT病相关；线粒体融合蛋白2（MFN2）基因的点突变是最常见的病因之一。我们研究了一个患有CMT病的中国家系，其中受累个体的表型各不相同，且该家系中除先证者外男性远端腿部的无力状况不如女性严重。连锁分析和PCR测序揭示了MFN2基因中的一个错义突变（NM_014874.3:c.1066 A>G），导致密码子356处的苏氨酸被丙氨酸替代（Thr356Ala）。这是CMT家系中的一种新表型和突变。
