MUTATION OF PRPS1 GENE CAUSING CMTX5 DISEASE AND THE USE THEREOF

摘要

Disclosed is a gene mutation associated with peripheral neuropathy associated with sensorineural hearing loss and optic neuropathy. More specifically, disclosed are: a polynucleotide comprising a mutation associated with peripheral neuropathy associated with sensorineural hearing loss and optic neuropathy, or a complementary polynucleotide thereof; a polynucleotide which hybridizes with said polynucleotide; a polypeptide which is encoded by said polynucleotide; an antibody which binds to said polypeptide; and a microarray chip and a kit, which comprise said polynucleotide. Also disclosed are a method for diagnosing a syndrome of peripheral neuropathy associated with sensorineural hearing loss and optic neuropathy, a method for detecting the mutation, and a method for screening drugs for treating these diseases.