Case Report A novel mutation of the MFN2 gene in a Chinese family with Charcot-Marie-Tooth disease

Abstract

ABSTRACT. 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.

Identification of a Location at Chromosome 19p in a Big Chinese Family with Charcot-Marie-Tooth Disease

“…The clinical features can range from severe muscle atrophy, sensory loss to no symptoms in affected members [7][8][9]. Notably, in the patients, the clinical symptoms became gradually worse and the onset age of the affected members were advanced with the increased genetic generation ( Table 3).…”