SBF1 (MTMR5) AS A CAUSATIVE GENE RESPONSIBLE FOR A INHERITED CHARCOT-MARIE-TOOTH PERIPHERAL NEUROPATHY TYPE CMT4B3 AND DIAGNOSIS METHOD AND COMPOSITION FOR THE DISEASE

摘要

PURPOSE: A diagnostic method for Charcot-Marie-Tooth peripheral neuropathy by using SBF1 mutable gene is provided to ensure the accurate and early diagnosis of the hereditary neuropathy of CMT4B3, thereby maximizing therapeutic effect through applying recently developed treatment method in the early stage and enabling tailored treatment according to accurate pathogenesis. CONSTITUTION: A SBF1 mutable gene is a diagnostic marker for the CMT4B3 subtype of CMT peripheral neuropathy. The structure of SBF1 comprises an adenine-to-guanine substitution of the 4768th base of sequence number 1 base sequence and an adenine-to-guanine substitution of the 1249th base of sequence number 2 base sequence. The composition of diagnosis for the CMT4B3 subtype of the CMT peripheral neuropathy comprises an agent, detecting the expression of the Sbf1 mutein which is coded from the SBF1 mRNA or the SBF1 mutable gene, from an entity sample. A method for providing information necessary for diagnosing the possibility of developing CMT peripheral neuropathy type CMT4B3 comprises the steps of: (1) detecting the expression of the Sbf1 mutein, which is coded from the SBF1 mRNA or the SBF1 mutable gene, from an entity sample; (2) detecting the expression of the Sbf1 mutein, coded from the SBF1 mRNA or the SBF1 mutable gene, in an entity sample; and determining the high possibility of developing the hereditary neuropathy of type CMT4B3, showing complex symptoms of peripheral neuropathy, muscular disease, and sensory neuropathy. [Reference numerals] (AA) Non-onset (III-11); (BB) Non-onset (II-3); (CC) Onset ( (III-8)