MUTANT GENES AS DIAGNOSTIC MARKERS FOR AMYOTROPHIC LATERAL SCLEROSIS AND DIAGNOSTIC METHOD USING SAME

摘要

The present invention provides RAPGEF2, IFT80, SSH2, XRCC3, SPAG17, PLEKHM2, CLEC4C, FRAS1, ADGRL3, and PSEN1 mutant genes and mutant proteins as markers for amyotrophic lateral sclerosis and a diagnostic method for amyotrophic lateral sclerosis using the same. The markers for amyotrophic lateral sclerosis of the present invention, which are new variants found in Korean ALS patients, are very rare variants with a frequency of less than 0.1% in the previously reported database or variants that have not been reported, and are variants not found in normal control groups. The mutant genes and/or the mutant proteins encoded therefrom found in the present invention can be very favorably used in establishing genetic causes of ALS and diagnosing ALS. A gene or protein test is performed on the mutant genes and/or the mutant proteins encoded therefrom found in the present invention, thereby allowing early diagnosis of amyotrophic lateral sclerosis and maximizing the therapeutic effect through the early application of an appropriate treatment method, and furthermore, enabling accurate customized treatment according to the etiological cause.