DGAT2 AS A CAUSATIVE GENE RESPONSIBLE FOR AN EARLY-ONSET AUTOSOMAL DOMINANT AXONAL CHARCOT-MARIE-TOOTH NEUROPATHY AND DIAGNOSIS METHOD FOR THE DISEASE

摘要

The present invention relates to a mutant diacylglycerol acyltransferase 2 (DGAT2) gene which is a causative gene for axonal Charcot-Marie-Tooth (CMT) neuropathy. In addition, provided is a mutant protein of DGAT2, synthesized by the mutant DGAT2 gene. Also, provided are a CMT diagnosing marker including the mutant DGAT2 gene or the protein, and a CMT diagnostic method using the CMT diagnosing marker. According to the present invention, the use of the mutant DGAT2 gene enables an early and accurate diagnosis of CMT before the onset of the disease.