In a pathway-based analysis of severe (i.e. >40 degree curves) AIS, restricting the analysis to novel (not found in dbSNP at that time) coding variants revealed association with musculoskeletal collagen genes, particularly COL11A2. 88 Dominant inheritance of mutations in COL11A1, COL11A2, and COL2A1 cause Stickler or Marshall syndromes (OMIM 604841, 184840, 154780). The gene discussed is COL11A2; the disease is Marshall syndrome.