Objective:　To　look　for　a　potent　gene　that　may　cause　intervertebral　disc　degeneration　in　a　family　with　intervertebral　disc　herniation　by　exome　sequencing　four　patients　with　intervertebral　disc　herniation　so　as　to　provide　possible　help　for　studies　on　the　causes　and　mechanisms　of　intervertebral　disc　diseases.　Methods:　We　collected　the　serum　of　patients　with　lumbar　disc　herniation　treated　at　The　First　Affiliated　Hospital　of　Xi＇an　Jiaotong　University,　The　First　Affiliated　Hospital　of　Xi＇an　Medical　College,　and　Xi＇an　Tangcheng　Hospital　from　January　2010　to　December　2016.　A　detailed　medical　history　was　collected　and　family　survey　was　conducted　to　find　a　family　with　high　incidence　of　degenerative　intervertebral　disc　disease.　Then　we　found　4　patients　aged　20　to　50　years　with　lumbar　disc　herniation　in　this　family.　Exome　sequencing　was　used　to　analyze　the　common　exon　mutation　sites　of　the　4　patients　to　find　the　common　mutation　sites.　Results:　The　common　mutation　IGFBP6,　Chr12:g.53494591T＞C,　was　detected　in　the　4　samples.　The　Sanger　sequencing　performed　in-family　validation　revealed　that　the　IGFBP6　showed　a　C/T　type　in　all　the　four　patients　and　a　T　type　in　all　the　five　normal　controls.　Finally,　verification　was　performed　in　200　normal　controls　and　no　mutation　was　found　in　this　site.　Therefore,　the　IGFBP6　might　be　the　effector　gene　that　caused　intervertebral　disc　degeneration　in　this　family.　Conclusion:　The　mutation　site　of　IGFBP6,　c.T430C　(p.S144P)　(Chr12:g.53494591T＞C),　may　be　a　factor　that　contributes　to　the　high　incidence　of　intervertebral　disc　herniation　in　this　family.　We　still　need　to　verify　the　function　of　the　gene　in　future.　Our　study　has　also　confirmed　that　exome　sequencing　technology　can　be　applied　to　the　detection　of　disease-causing　genes　in　complex　diseases.　©　2019,　Editorial　Board　of　Journal　of　Xi＇an　Jiaotong　University　(Medical　Sciences).　All　right　reserved.