Identification of Novel Gene Mutations in Degenerative Lumbar Spinal Stenosis Using Whole Exome Sequencing in Chinese Population

Degenerative lumbar spinal stenosis (DLSS) is a common lumbar disease requiring surgery. Previous studies indicate that genetic mutation may play a part in DLSS. However, there is scarcely specific study regarding the genetic study for DLSS. Whole exome sequencing (WES) is an effective strategy to search for disease-causing genes. To identify probable susceptible genes, we performed a WES in a cohort of 50 patients and 25 controls with DLSS. By bioinformatics analyses, we successfully identified several novel variants including HLA-DRB1 , PARK2, ACTR8, AOAH, BCORL1, MKRN2, NRG4, NUP205, etc. To the best of our knowledge, this is the first genetic study of susceptibility genes with DLSS by WES in Chinese patients. In conclusion, our findings revealed that deleterious mutations in these genes may contribute to the development of DLSS.